<?xml version="1.0" encoding="UTF-8" ?>
<!DOCTYPE eSummaryResult PUBLIC "-//NLM//DTD esummary clinvar 20240612//EN" "https://eutils.ncbi.nlm.nih.gov/eutils/dtd/20240612/esummary_clinvar.dtd">
<eSummaryResult>
<DocumentSummarySet status="OK">
<DbBuild>Build240918-0115.1</DbBuild>

<DocumentSummary uid="65533">
	<obj_type>single nucleotide variant</obj_type>
	<accession>VCV000065533</accession>
	<accession_version>VCV000065533.</accession_version>
	<title>NM_000081.4(LYST):c.1540C&gt;T (p.Arg514Ter)</title>
	<variation_set>
		<variation>
			<measure_id>76441</measure_id>
			<variation_xrefs>
				<variation_xref>
					<db_source>ClinGen</db_source>
					<db_id>CA344839</db_id>
				</variation_xref>
				<variation_xref>
					<db_source>dbSNP</db_source>
					<db_id>80338645</db_id>
				</variation_xref>
			</variation_xrefs>
			<variation_name>NM_000081.4(LYST):c.1540C&gt;T (p.Arg514Ter)</variation_name>
			<cdna_change>c.1540C&gt;T</cdna_change>
			<aliases>
			</aliases>
			<variation_loc>
				<assembly_set>
					<status>current</status>
					<assembly_name>GRCh38</assembly_name>
					<chr>1</chr>
					<band>1q42.3</band>
					<start>235809278</start>
					<stop>235809278</stop>
					<inner_start></inner_start>
					<inner_stop></inner_stop>
					<outer_start></outer_start>
					<outer_stop></outer_stop>
					<display_start>235809278</display_start>
					<display_stop>235809278</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>1</chr>
					<band>1q42.3</band>
					<start>235972578</start>
					<stop>235972578</stop>
					<inner_start></inner_start>
					<inner_stop></inner_stop>
					<outer_start></outer_start>
					<outer_stop></outer_stop>
					<display_start>235972578</display_start>
					<display_stop>235972578</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_set>
			<variant_type>single nucleotide variant</variant_type>
			<canonical_spdi>NC_000001.11:235809277:G:A</canonical_spdi>
		</variation>
	</variation_set>
	<supporting_submissions>
		<scv>
			<string>SCV000086661</string>
			<string>SCV002223475</string>
			<string>SCV005060574</string>
			<string>SCV002570366</string>
		</scv>
		<rcv>
			<string>RCV000055723</string>
		</rcv>
	</supporting_submissions>
	<germline_classification>
		<description>Pathogenic</description>
		<last_evaluated>2024/03/07 00:00</last_evaluated>
		<review_status>criteria provided, multiple submitters, no conflicts</review_status>
		<fda_recognized_database></fda_recognized_database>
		<trait_set>
			<trait>
				<trait_xrefs>
					<trait_xref>
						<db_source>Orphanet</db_source>
						<db_id>167</db_id>
					</trait_xref>
					<trait_xref>
						<db_source>MedGen</db_source>
						<db_id>C0007965</db_id>
					</trait_xref>
					<trait_xref>
						<db_source>MONDO</db_source>
						<db_id>MONDO:0008963</db_id>
					</trait_xref>
					<trait_xref>
						<db_source>OMIM</db_source>
						<db_id>214500</db_id>
					</trait_xref>
				</trait_xrefs>
				<trait_name>Chédiak-Higashi syndrome</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>LYST</gene_sort>
	<chr_sort>01</chr_sort>
	<location_sort>00000000000235809278</location_sort>
	<variation_set_name></variation_set_name>
	<variation_set_id></variation_set_id>
	<genes>
		<gene>
			<symbol>LYST</symbol>
			<GeneID>1130</GeneID>
			<strand>-</strand>
			<source>submitted</source>
		</gene>
	</genes>
	<molecular_consequence_list>
		<string>nonsense</string>
	</molecular_consequence_list>
	<protein_change>R514*</protein_change>
	<fda_recognized_database></fda_recognized_database>
</DocumentSummary>

</DocumentSummarySet>
</eSummaryResult>
