ClinVar Miner

Submissions for variant NM_000157.4(GBA1):c.1043C>G (p.Ala348Gly)

gnomAD frequency: 0.00001  dbSNP: rs78396650
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001773961 SCV001994420 uncertain significance not provided 2019-08-26 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; Missense variants in nearby residues reported in the Human Gene Mutation Database (Stenson et al., 2014)
Fulgent Genetics, Fulgent Genetics RCV002489761 SCV002793095 uncertain significance Lewy body dementia; Gaucher disease type I; Gaucher disease type II; Gaucher disease type III; Gaucher disease perinatal lethal; Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome; Parkinson disease, late-onset 2022-03-15 criteria provided, single submitter clinical testing

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