ClinVar Miner

Submissions for variant NM_000169.2(GLA):c.422C>T (p.Thr141Ile) (rs886044843)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000305413 SCV000338648 pathogenic not provided 2015-12-23 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000781431 SCV000919449 pathogenic Fabry disease 2018-11-20 criteria provided, single submitter clinical testing Variant summary: GLA c.422C>T (p.Thr141Ile) results in a non-conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 178764 control chromosomes. c.422C>T has been reported in the literature in individuals affected with Fabry Disease (Shabbeer_2002, Boyd_2013, Sirrs_2010, Vieitez_2018). These data indicate that the variant may be associated with disease. A functional study reported the alpha-Gal A activity in vitro to be below level of detection and was reported among mutations not amenable to Migalastat (Benjamin_2016). One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. One laboratory classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.

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