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NM_000520.6(HEXA):c.1171G>A (p.Val391Met)

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Interpretation:
Likely pathogenic​

Review status:
criteria provided, single submitter
Submissions:
1 (Most recent: Jan 7, 2021)
Last evaluated:
Sep 2, 2020
Accession:
VCV001067655.1
Variation ID:
1067655
Description:
single nucleotide variant
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NM_000520.6(HEXA):c.1171G>A (p.Val391Met)

Allele ID
1056258
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
15q23
Genomic location
15: 72346686 (GRCh38) GRCh38 UCSC
15: 72639027 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000015.10:g.72346686C>T
NC_000015.9:g.72639027C>T
NG_009017.2:g.34494G>A
... more HGVS
Protein change
V391M, V402M
Other names
-
Canonical SPDI
NC_000015.10:72346685:C: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 Sep 2, 2020 RCV001378981.1
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Gene OMIM ClinGen Gene Dosage Sensitivity Curation Variation viewer Related variants
HI score Help TS score Help Within gene All
HEXA - - GRCh38
GRCh37
484 511

Submitted interpretations and evidence

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Interpretation
(Last evaluated)
Review status
(Assertion criteria)
Condition
(Inheritance)
Submitter Supporting information
Likely pathogenic
(Sep 02, 2020)
criteria provided, single submitter
Method: clinical testing
Tay-Sachs disease
Allele origin: germline
Invitae
Accession: SCV001576692.1
Submitted: (Jan 07, 2021)
Evidence details
Publications
PubMed (1)
Comment:
This sequence change replaces valine with methionine at codon 391 of the HEXA protein (p.Val391Met). The valine residue is highly conserved and there is 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 new mutation in the HEXA gene associated with a spinal muscular atrophy phenotype. Navon R Neurology 1995 PMID: 7898712

Record last updated Oct 08, 2021