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NM_001352514.2(HLCS):c.1439T>A (p.Val480Glu)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Mar 22, 2020
Accession:
VCV001066875.1
Variation ID:
1066875
Description:
single nucleotide variant
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NM_001352514.2(HLCS):c.1439T>A (p.Val480Glu)

Allele ID
1056644
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
21q22.13
Genomic location
21: 36930432 (GRCh38) GRCh38 UCSC
21: 38302732 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000021.8:g.38302732A>T
NC_000021.9:g.36930432A>T
NG_016193.2:g.64963T>A
... more HGVS
Protein change
V333E, V480E
Other names
-
Canonical SPDI
NC_000021.9:36930431:A:T
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
VarSome
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Aggregate interpretations per condition

Interpreted condition Interpretation Number of submissions Review status Last evaluated Variation/condition record
Likely pathogenic 1 criteria provided, single submitter Mar 22, 2020 RCV001377994.1
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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
512 578

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Mar 22, 2020)
criteria provided, single submitter
Method: clinical testing
Holocarboxylase synthetase deficiency
Allele origin: germline
Invitae
Accession: SCV001575464.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (3)
Comment:
This sequence change replaces valine with glutamic acid at codon 433 of the HLCS protein (p.Val333Glu). 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
Structure of human holocarboxylase synthetase gene and mutation spectrum of holocarboxylase synthetase deficiency. Yang X Human genetics 2001 PMID: 11735028
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
Identification and characterization of mutations in patients with holocarboxylase synthetase deficiency. Aoki Y Human genetics 1999 PMID: 10190325

Record last updated Oct 08, 2021