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NM_001352514.2(HLCS):c.1529T>A (p.Val510Asp)

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Interpretation:
Pathogenic/Likely pathogenic​

Review status:
criteria provided, multiple submitters, no conflicts
Submissions:
2 (Most recent: Jan 7, 2021)
Last evaluated:
May 5, 2020
Accession:
VCV000550218.3
Variation ID:
550218
Description:
single nucleotide variant
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NM_001352514.2(HLCS):c.1529T>A (p.Val510Asp)

Allele ID
549255
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
21q22.13
Genomic location
21: 36930342 (GRCh38) GRCh38 UCSC
21: 38302642 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000021.8:g.38302642A>T
NC_000021.9:g.36930342A>T
NG_016193.2:g.65053T>A
... more HGVS
Protein change
V363D, V510D
Other names
-
Canonical SPDI
NC_000021.9:36930341:A:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
Exome Aggregation Consortium (ExAC) 0.00002
The Genome Aggregation Database (gnomAD), exomes 0.00002
Links
dbSNP: rs769499327
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Pathogenic/Likely pathogenic 2 criteria provided, multiple submitters, no conflicts May 5, 2020 RCV000664908.3
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
HLCS - - GRCh38
GRCh37
513 580

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Jan 11, 2017)
criteria provided, single submitter
Method: clinical testing
Holocarboxylase synthetase deficiency
Allele origin: unknown
Counsyl
Accession: SCV000788938.1
Submitted: (Jul 10, 2018)
Evidence details
Publications
PubMed (4)
Pathogenic
(May 05, 2020)
criteria provided, single submitter
Method: clinical testing
Holocarboxylase synthetase deficiency
Allele origin: germline
Invitae
Accession: SCV001414570.2
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (4)
Comment:
This sequence change replaces valine with aspartic acid at codon 363 of the HLCS protein (p.Val363Asp). The valine residue is moderately conserved and there is … (more)

Functional evidence

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There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar.

Citations for this variant

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Title Author Journal Year Link
[Gene mutation analyses in Chinese children with multiple carboxylase deficiency]. Wang T Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2009 PMID: 19806568
[Diagnosis, treatment and gene mutation analysis in children with holocarboxylase synthetas deficiency]. Wang T Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 2009 PMID: 19695181
Relationship between kinetic properties of mutant enzyme and biochemical and clinical responsiveness to biotin in holocarboxylase synthetase deficiency. Sakamoto O Pediatric research 1999 PMID: 10590022
Mechanism of biotin responsiveness in biotin-responsive multiple carboxylase deficiency. Dupuis L Molecular genetics and metabolism 1999 PMID: 10068510
Clustering of mutations in the biotin-binding region of holocarboxylase synthetase in biotin-responsive multiple carboxylase deficiency. Dupuis L Human molecular genetics 1996 PMID: 8817339

Text-mined citations for rs769499327...

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These citations are identified by LitVar using the rs number, so they may include citations for more than one variant at this location. Please review the LitVar results carefully for your variant of interest.

Record last updated Nov 27, 2021