ClinVar Miner

Submissions for variant NM_000157.4(GBA):c.1171G>C (p.Val391Leu) (rs398123527)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000180534 SCV000232996 pathogenic not provided 2012-11-28 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000781412 SCV000919419 likely pathogenic Gaucher disease 2018-11-16 criteria provided, single submitter clinical testing Variant summary: GBA c.1171G>C (p.Val391Leu) results in a conservative amino acid change located in the Glycosyl hydrolase family 30, TIM-barrel domain of the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 246252 control chromosomes (gnomAD). c.1171G>C has been reported in the literature in individuals affected with Gaucher Disease (Grace_1997, Koprivica_2000, Perucca_2018). These data indicate that the variant may be associated with disease. A functional study, Grace_1997, found the variant to have lower specific activity and affinity for specific inhibitors. 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 likely pathogenic.
Baylor Genetics RCV001004119 SCV001162850 likely pathogenic Gaucher disease type I; Gaucher disease type II; Gaucher disease type III; Gaucher disease type 3C criteria provided, single submitter clinical testing
Natera, Inc. RCV000781412 SCV001461741 likely pathogenic Gaucher disease 2020-09-16 no assertion criteria provided clinical testing

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