ClinVar Miner

Submissions for variant NM_000169.3(GLA):c.128G>T (p.Gly43Val)

dbSNP: rs1928583820
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001193639 SCV001362607 pathogenic Fabry disease 2019-11-11 criteria provided, single submitter clinical testing Variant summary: GLA c.128G>T (p.Gly43Val) 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 183430 control chromosomes. c.128G>T has been reported in the literature in at-least one individual affected with classic Fabry Disease and has been subsequently cited in numerous locus specific databases (example, Fabry Disease database) and structural prediction reports (Shabbeer_2002, Saito_2013, Riera_2015, Benjamin_2017). At least one publication reports experimental evidence evaluating an impact on protein function although the primary data was not provided (Shabbeer_2002). The most pronounced variant effect results in <10% of normal activity. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as pathogenic.

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