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NM_001352514.2(HLCS):c.1163G>C (p.Gly388Ala)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Nov 1, 2016)
Last evaluated:
Jul 21, 2015
Accession:
VCV000369667.1
Variation ID:
369667
Description:
single nucleotide variant
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NM_001352514.2(HLCS):c.1163G>C (p.Gly388Ala)

Allele ID
353911
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
21q22.13
Genomic location
21: 36936723 (GRCh38) GRCh38 UCSC
21: 38309023 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000021.8:g.38309023C>G
NC_000021.9:g.36936723C>G
NG_016193.2:g.58672G>C
... more HGVS
Protein change
G241A, G388A
Other names
-
Canonical SPDI
NC_000021.9:36936722:C:G
Functional consequence
-
Global minor allele frequency (GMAF)
-

Allele frequency
-
Links
ClinGen: CA10654770
dbSNP: rs1057516035
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 Jul 21, 2015 RCV000408618.1

Clinical features observed in individuals with this variant

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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
(Jul 21, 2015)
criteria provided, single submitter
Method: clinical testing
Holocarboxylase synthetase deficiency
(Autosomal recessive inheritance)
Allele origin: inherited
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute
Accession: SCV000484429.1
Submitted: (Nov 01, 2016)
Evidence details
Publications
PubMed (1)
Comment:
This homozygous variant was identified in a patient with biochemical features of HLCS deficiency. This substitution is predicted to result in a change of a … (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
A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders. Stark Z Genetics in medicine : official journal of the American College of Medical Genetics 2016 PMID: 26938784

Text-mined citations for rs1057516035...

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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 Oct 24, 2021