ClinVar Miner

Submissions for variant NM_000169.2(GLA):c.1235_1236del (p.Thr412fs) (rs797044777)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000179730 SCV000232024 pathogenic not provided 2015-02-05 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000781423 SCV000919441 pathogenic Fabry disease 2019-11-19 criteria provided, single submitter clinical testing Variant summary: GLA c.1235_1236delCT (p.Thr412SerfsX24+) causes a frameshift which results in an extension of the protein. The variant was absent in 183416 control chromosomes (gnomAD). c.1235_1236delCT has been reported in the literature in multiple individuals affected with Fabry Disease (Park_2009, Blaydon_2001, Juchniewicz_2018, McCloskey_2018). These data indicate that the variant is very likely to be associated with disease. A ClinVar submission (evaluation after 2014) cites the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.
Invitae RCV000781423 SCV001222317 pathogenic Fabry disease 2019-12-30 criteria provided, single submitter clinical testing This sequence change results in a frameshift in the GLA gene (p.Thr412Serfs*38). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 18 amino acids of the GLA protein and extend the protein by an additional 19 amino acids. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals affected with Fabry disease (PMID: 1668641, 28728877, 23935525, 22551898, 30386727, 16595074, 20505683, Invitae). ClinVar contains an entry for this variant (Variation ID: 198402). For these reasons, this variant has been classified as Pathogenic.

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