ClinVar Miner

Submissions for variant NM_000169.3(GLA):c.1042dup (p.Ala348fs)

dbSNP: rs2147471207
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Revvity Omics, Revvity RCV001783370 SCV002024297 pathogenic not provided 2023-05-04 criteria provided, single submitter clinical testing
Invitae RCV003509693 SCV004299623 pathogenic Fabry disease 2023-11-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala348Glyfs*27) in the GLA gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 82 amino acid(s) of the GLA protein. This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individuals with Fabry disease (PMID: 12175777, 33437642). ClinVar contains an entry for this variant (Variation ID: 1323006). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This variant disrupts a region of the GLA protein in which other variant(s) (p.Pro409Ser) have been determined to be pathogenic (PMID: 12428061, 28768754, 31392112; 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. For these reasons, this variant has been classified as Pathogenic.

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