ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.82C>T (p.Gln28Ter)

gnomAD frequency: 0.00001  dbSNP: rs751393950
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410898 SCV000487264 likely pathogenic Tay-Sachs disease 2016-11-03 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000410898 SCV002809951 likely pathogenic Tay-Sachs disease 2021-10-06 criteria provided, single submitter clinical testing
Invitae RCV000410898 SCV003445494 pathogenic Tay-Sachs disease 2022-08-22 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 371633). This variant has not been reported in the literature in individuals affected with HEXA-related conditions. This variant is present in population databases (rs751393950, gnomAD 0.002%). This sequence change creates a premature translational stop signal (p.Gln28*) 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).

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