ClinVar Miner

Submissions for variant NM_000157.4(GBA):c.835C>G (p.Leu279Val) (rs1057519020)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000416353 SCV000282237 uncertain significance Subacute neuronopathic Gaucher's disease 2015-12-21 no assertion criteria provided research Variant c.835 C>G (p.L279V) was found to be novel benign polymorphism by various online software like Mutation Taster, SIFT and Polyphen-2 but functionally might have gene conversion effect that might alter the activity of GBA gene; Chitotriosidase: 19627.2 nmol/hr/ml Plasma (N.R.: 28.66 - 62.94); Beta-Glucosidase: 0.75 nmol/hr/mg Protein (N.R.: 4.0 - 32.0)

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