ClinVar Miner

Submissions for variant NM_000169.2(GLA):c.613C>A (p.Pro205Thr) (rs397515870)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000769540 SCV000900935 likely pathogenic Cardiomyopathy 2017-05-08 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723986 SCV000202802 pathogenic not provided 2017-09-27 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000153322 SCV000058953 likely pathogenic Fabry disease 2016-06-07 criteria provided, single submitter clinical testing The p.Pro205Thr variant in GLA has been reported in at least 4 individuals with Fabry disease and/or LVH (Blanch 1996, Davies 1996, Schafer 2005, Shimotori 2008 ) and has been identified by our laboratory in 1 family with HCM, segregating wi th one affected relative. It was absent from large population studies. In vitro assays showed the p.Pro205Thr variant was associated with decreased alpha-Gal ac tivity (~18% of normal enzyme activity), and that enzymatic levels increased aft er treatment with an experimental chaperone (Shimotori 2008, Wu 2011). However, these in vitro assays may not accurately represent biological function. In summa ry, this variant is likely to be pathogenic, though additional studies are requi red to fully establish its clinical significance.

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