ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.139C>T (p.Gln47Ter)

gnomAD frequency: 0.00001  dbSNP: rs745996955
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669356 SCV000794102 likely pathogenic Tay-Sachs disease 2017-09-13 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000669356 SCV002204868 pathogenic Tay-Sachs disease 2024-09-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln47*) 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 present in population databases (rs745996955, gnomAD 0.007%). This premature translational stop signal has been observed in individual(s) with Tay-Sachs disease (PMID: 12180151). ClinVar contains an entry for this variant (Variation ID: 553832). For these reasons, this variant has been classified as Pathogenic.

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