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<DocumentSummary uid="1904">
	<obj_type>Haplotype</obj_type>
	<accession>VCV000001904</accession>
	<accession_version>VCV000001904.</accession_version>
	<title>NM_000060.2(BTD):c.[1207T&gt;G;1330G&gt;C]</title>
	<variation_set>
		<variation>
			<measure_id>16939</measure_id>
			<variation_xrefs>
				<variation_xref>
					<db_source>ClinGen</db_source>
					<db_id>CA090886</db_id>
				</variation_xref>
				<variation_xref>
					<db_source>Genetic Testing Registry (GTR)</db_source>
					<db_id>GTR000167612</db_id>
				</variation_xref>
				<variation_xref>
					<db_source>UniProtKB</db_source>
					<db_id>P43251#VAR_005117</db_id>
				</variation_xref>
				<variation_xref>
					<db_source>OMIM</db_source>
					<db_id>609019.0005</db_id>
				</variation_xref>
				<variation_xref>
					<db_source>OMIM</db_source>
					<db_id>609019.0009</db_id>
				</variation_xref>
				<variation_xref>
					<db_source>dbSNP</db_source>
					<db_id>13078881</db_id>
				</variation_xref>
				<variation_xref>
					<db_source>ClinVar</db_source>
					<db_id>1904</db_id>
				</variation_xref>
				<variation_xref>
					<db_source>ClinVar</db_source>
					<db_id>25016</db_id>
				</variation_xref>
			</variation_xrefs>
			<variation_name>NM_001370658.1(BTD):c.1270G&gt;C (p.Asp424His)</variation_name>
			<cdna_change>c.1270G&gt;C</cdna_change>
			<aliases>
				<string>D444H</string>
				<string>p.D444H:GAT&gt;CAT</string>
				<string>p.Asp424His</string>
			</aliases>
			<variation_loc>
				<assembly_set>
					<status>current</status>
					<assembly_name>GRCh38</assembly_name>
					<chr>3</chr>
					<band>3p25.1</band>
					<start>15645186</start>
					<stop>15645186</stop>
					<inner_start></inner_start>
					<inner_stop></inner_stop>
					<outer_start></outer_start>
					<outer_stop></outer_stop>
					<display_start>15645186</display_start>
					<display_stop>15645186</display_stop>
					<assembly_acc_ver>GCF_000001405.38</assembly_acc_ver>
					<annotation_release></annotation_release>
					<alt></alt>
					<ref></ref>
				</assembly_set>
				<assembly_set>
					<status>previous</status>
					<assembly_name>GRCh37</assembly_name>
					<chr>3</chr>
					<band>3p25.1</band>
					<start>15686693</start>
					<stop>15686693</stop>
					<inner_start></inner_start>
					<inner_stop></inner_stop>
					<outer_start></outer_start>
					<outer_stop></outer_stop>
					<display_start>15686693</display_start>
					<display_stop>15686693</display_stop>
					<assembly_acc_ver>GCF_000001405.25</assembly_acc_ver>
					<annotation_release></annotation_release>
					<alt></alt>
					<ref></ref>
				</assembly_set>
			</variation_loc>
			<allele_freq_set>
				<allele_freq>
					<source>Trans-Omics for Precision Medicine (TOPMed)</source>
					<value>0.02561</value>
					<minor_allele></minor_allele>
				</allele_freq>
				<allele_freq>
					<source>Exome Aggregation Consortium (ExAC)</source>
					<value>0.03166</value>
					<minor_allele></minor_allele>
				</allele_freq>
				<allele_freq>
					<source>The Genome Aggregation Database (gnomAD), exomes</source>
					<value>0.03225</value>
					<minor_allele></minor_allele>
				</allele_freq>
				<allele_freq>
					<source>1000 Genomes Project</source>
					<value>0.01857</value>
					<minor_allele>C</minor_allele>
				</allele_freq>
			</allele_freq_set>
			<variant_type>single nucleotide variant</variant_type>
			<canonical_spdi>NC_000003.12:15645185:G:C</canonical_spdi>
		</variation>
		<variation>
			<measure_id>16943</measure_id>
			<variation_xrefs>
				<variation_xref>
					<db_source>dbSNP</db_source>
					<db_id>104893686</db_id>
				</variation_xref>
				<variation_xref>
					<db_source>ClinVar</db_source>
					<db_id>1904</db_id>
				</variation_xref>
				<variation_xref>
					<db_source>ClinGen</db_source>
					<db_id>CA312373</db_id>
				</variation_xref>
				<variation_xref>
					<db_source>Genetic Testing Registry (GTR)</db_source>
					<db_id>GTR000167612</db_id>
				</variation_xref>
				<variation_xref>
					<db_source>OMIM</db_source>
					<db_id>609019.0009</db_id>
				</variation_xref>
			</variation_xrefs>
			<variation_name>NM_001370658.1(BTD):c.1147T&gt;G (p.Phe383Val)</variation_name>
			<cdna_change>c.1147T&gt;G</cdna_change>
			<aliases>
				<string>F403V</string>
			</aliases>
			<variation_loc>
				<assembly_set>
					<status>current</status>
					<assembly_name>GRCh38</assembly_name>
					<chr>3</chr>
					<band>3p25.1</band>
					<start>15645063</start>
					<stop>15645063</stop>
					<inner_start></inner_start>
					<inner_stop></inner_stop>
					<outer_start></outer_start>
					<outer_stop></outer_stop>
					<display_start>15645063</display_start>
					<display_stop>15645063</display_stop>
					<assembly_acc_ver>GCF_000001405.38</assembly_acc_ver>
					<annotation_release></annotation_release>
					<alt></alt>
					<ref></ref>
				</assembly_set>
				<assembly_set>
					<status>previous</status>
					<assembly_name>GRCh37</assembly_name>
					<chr>3</chr>
					<band>3p25.1</band>
					<start>15686570</start>
					<stop>15686570</stop>
					<inner_start></inner_start>
					<inner_stop></inner_stop>
					<outer_start></outer_start>
					<outer_stop></outer_stop>
					<display_start>15686570</display_start>
					<display_stop>15686570</display_stop>
					<assembly_acc_ver>GCF_000001405.25</assembly_acc_ver>
					<annotation_release></annotation_release>
					<alt></alt>
					<ref></ref>
				</assembly_set>
			</variation_loc>
			<allele_freq_set>
				<allele_freq>
					<source>Trans-Omics for Precision Medicine (TOPMed)</source>
					<value>0.00001</value>
					<minor_allele></minor_allele>
				</allele_freq>
				<allele_freq>
					<source>The Genome Aggregation Database (gnomAD), exomes</source>
					<value>0.00002</value>
					<minor_allele></minor_allele>
				</allele_freq>
			</allele_freq_set>
			<variant_type>single nucleotide variant</variant_type>
			<canonical_spdi>NC_000003.12:15645062:T:G</canonical_spdi>
		</variation>
	</variation_set>
	<supporting_submissions>
		<scv>
			<string>SCV000022139</string>
			<string>SCV001748683</string>
		</scv>
		<rcv>
			<string>RCV000001981</string>
		</rcv>
	</supporting_submissions>
	<germline_classification>
		<description>Pathogenic</description>
		<last_evaluated>2021/06/29 00:00</last_evaluated>
		<review_status>criteria provided, single submitter</review_status>
		<fda_recognized_database></fda_recognized_database>
		<trait_set>
			<trait>
				<trait_xrefs>
					<trait_xref>
						<db_source>Orphanet</db_source>
						<db_id>79241</db_id>
					</trait_xref>
					<trait_xref>
						<db_source>MedGen</db_source>
						<db_id>C0220754</db_id>
					</trait_xref>
					<trait_xref>
						<db_source>MONDO</db_source>
						<db_id>MONDO:0009665</db_id>
					</trait_xref>
					<trait_xref>
						<db_source>OMIM</db_source>
						<db_id>253260</db_id>
					</trait_xref>
				</trait_xrefs>
				<trait_name>Biotinidase deficiency</trait_name>
			</trait>
		</trait_set>
	</germline_classification>
	<clinical_impact_classification>
		<description></description>
		<last_evaluated>1/01/01 00:00</last_evaluated>
		<review_status></review_status>
		<fda_recognized_database></fda_recognized_database>
		<trait_set>
		</trait_set>
	</clinical_impact_classification>
	<oncogenicity_classification>
		<description></description>
		<last_evaluated>1/01/01 00:00</last_evaluated>
		<review_status></review_status>
		<fda_recognized_database></fda_recognized_database>
		<trait_set>
		</trait_set>
	</oncogenicity_classification>
	<record_status></record_status>
	<gene_sort>BTD</gene_sort>
	<chr_sort>03</chr_sort>
	<location_sort>00000000000015645186</location_sort>
	<variation_set_name></variation_set_name>
	<variation_set_id></variation_set_id>
	<genes>
		<gene>
			<symbol>BTD</symbol>
			<GeneID>686</GeneID>
			<strand>+</strand>
			<source>submitted</source>
		</gene>
		<gene>
			<symbol>BTD</symbol>
			<GeneID>686</GeneID>
			<strand>+</strand>
			<source>submitted</source>
		</gene>
	</genes>
	<molecular_consequence_list>
		<string>missense variant</string>
		<string>intron variant</string>
	</molecular_consequence_list>
	<protein_change>D424H, F383V</protein_change>
	<fda_recognized_database></fda_recognized_database>
</DocumentSummary>

</DocumentSummarySet>
</eSummaryResult>
