ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.3G>A (p.Met1Ile) (rs1595816410)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000798879 SCV000938518 pathogenic Tay-Sachs disease 2018-12-31 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 (ExAC no frequency). Disruption of the initiator codon (c.1A>G, c.1A>T, c.2T>C) has been reported in numerous individuals affected with Tay-Sach disease or GM2-gangliosidosis (PMID: 21796138, 15108204, 16088929, 8445615, 9153525, 1532289). For these reasons, this variant has been classified as Pathogenic.

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