ClinVar Miner

Submissions for variant NM_000520.6(HEXA):c.1048C>T (p.Gln350Ter)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003887529 SCV004703755 pathogenic not provided 2024-02-01 criteria provided, single submitter clinical testing HEXA: PVS1, PM2
Labcorp Genetics (formerly Invitae), Labcorp RCV005101470 SCV005744193 pathogenic Tay-Sachs disease 2024-09-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln350*) 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 variant has not been reported in the literature in individuals affected with HEXA-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. For these reasons, this variant has been classified as Pathogenic.

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