ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.1114del (p.Val372fs)

dbSNP: rs2140321846
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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 RCV002002545 SCV002231277 pathogenic Tay-Sachs disease 2021-02-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val372Cysfs*10) 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 (ExAC no frequency). This variant has not been reported in the literature in individuals with HEXA-related conditions. For these reasons, this variant has been classified as Pathogenic.
Myriad Genetics, Inc. RCV002002545 SCV002603724 likely pathogenic Tay-Sachs disease 2022-02-20 criteria provided, single submitter clinical testing NM_000520.4(HEXA):c.1114delG(V372Cfs*10) is expected to be pathogenic in the context of hexosaminidase A deficiency. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in HEXA, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening.

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