ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.631_634del (p.Phe211fs)

dbSNP: rs2088690227
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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 RCV001204941 SCV001376173 pathogenic Tay-Sachs disease 2022-03-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Phe211Hisfs*11) 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 individuals with Tay–Sachs disease (PMID: 22441121). This variant is also known as c.624_627delTCCT. ClinVar contains an entry for this variant (Variation ID: 936196). For these reasons, this variant has been classified as Pathogenic.
Natera, Inc. RCV001204941 SCV002086290 pathogenic Tay-Sachs disease 2021-01-05 no assertion criteria provided clinical testing

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