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NM_000520.6(HEXA):c.284T>A (p.Leu95Ter)

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Interpretation:
Likely pathogenic​

Review status:
no assertion criteria provided
Submissions:
1 (Most recent: Oct 30, 2020)
Last evaluated:
Jun 7, 2019
Accession:
VCV000984040.1
Variation ID:
984040
Description:
single nucleotide variant
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NM_000520.6(HEXA):c.284T>A (p.Leu95Ter)

Allele ID
972222
Variant type
single nucleotide variant
Variant length
1 bp
Cytogenetic location
15q23
Genomic location
15: 72356587 (GRCh38) GRCh38 UCSC
15: 72648928 (GRCh37) GRCh37 UCSC
HGVS
Nucleotide Protein Molecular
consequence
NC_000015.10:g.72356587A>T
NC_000015.9:g.72648928A>T
NG_009017.1:g.24593T>A
... more HGVS
Protein change
L106*, L95*
Other names
-
Canonical SPDI
NC_000015.10:72356586: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 no assertion criteria provided Jun 7, 2019 RCV001264045.1
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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
(Jun 07, 2019)
no assertion criteria provided
Method: clinical testing
Tay-Sachs disease
Allele origin: unknown
Myriad Women's Health, Inc.
Accession: SCV001442145.1
Submitted: (Oct 30, 2020)
Comment:
NM_000520.4(HEXA):c.284T>A(L95*) is expected to be pathogenic in the context of hexosaminidase A deficiency. This variant is predicted to lead to an abnormal or absent protein … (more)
Evidence details

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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There are no citations in ClinVar for this variation. If you know of citations for this variation, please consider submitting that information to ClinVar.

Record last updated Oct 08, 2021