ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.1A>T (p.Met1Leu)

dbSNP: rs121907965
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000596803 SCV000700438 pathogenic not provided 2017-03-02 criteria provided, single submitter clinical testing
Invitae RCV003502538 SCV004297651 pathogenic Tay-Sachs disease 2024-01-12 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the HEXA mRNA. The next in-frame methionine is located at codon 193. This variant is not present in population databases (gnomAD no frequency). Disruption of the initiator codon has been observed in individual(s) with hexosaminidase A deficiency (PMID: 1532289, 21796138). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 496858). For these reasons, this variant has been classified as Pathogenic.

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