ClinVar Miner

Submissions for variant NM_000157.4(GBA):c.894C>A (p.Phe298Leu)

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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 RCV001199909 SCV001370675 likely pathogenic Gaucher disease 2020-05-17 criteria provided, single submitter clinical testing Variant summary: GBA c.894C>A (p.Phe298Leu) results in a non-conservative amino acid change located in the Glycosyl hydrolase family 30, TIM-barrel domain (IPR033453) of 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 251196 control chromosomes (gnomAD). c.894C>A has been reported in the literature in individuals affected with type 2 Gaucher Disease (in compound heterozygous state; Stone_2000) and Parkinsons disease (in heterozygous state; Blauwendraat_2018). In an in vitro functional study, the variant was found to have reduced enzymatic activity (Liou_2006). 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.

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