ClinVar Miner

Submissions for variant NM_000169.3(GLA):c.1094dup (p.Tyr365Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002825652 SCV003206441 pathogenic Fabry disease 2022-09-27 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the GLA protein in which other variant(s) (p.Pro409Ser) have been determined to be pathogenic (PMID: 11668641, 12428061, 21598360; Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. This premature translational stop signal has been observed in individuals with Fabry disease (PMID: 30988410, 31996269). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr365*) in the GLA gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 65 amino acid(s) of the GLA protein.

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