ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.1176G>A (p.Trp392Ter)

dbSNP: rs267606862
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000004142 SCV004516840 pathogenic Tay-Sachs disease 2023-11-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp392*) in the HEXA gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in HEXA are known to be pathogenic (PMID: 1833974, 8490625). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Tay-Sachs disease (PMID: 1301958). ClinVar contains an entry for this variant (Variation ID: 3936). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000004142 SCV000024308 affects Tay-Sachs disease 1992-01-01 no assertion criteria provided literature only

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