ClinVar Miner

Submissions for variant NM_000157.4(GBA1):c.1249T>G (p.Trp417Gly)

dbSNP: rs1450426641
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001583104 SCV001810693 likely pathogenic not provided 2021-02-22 criteria provided, single submitter clinical testing Also reported in an individual with Parkinson disease who was heterozygous for this variant, however, information regarding parental testing was not available (Noreau et al., 2011).; In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Also reported as W378G due to alternate nomenclature; This variant is associated with the following publications: (PMID: 33176831, 29920646, 21856586, 26995357, 23079555, 8790604, 24219755)
Fulgent Genetics, Fulgent Genetics RCV002488413 SCV002792186 pathogenic 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 2021-09-21 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001583104 SCV005439161 pathogenic not provided 2023-10-16 criteria provided, single submitter clinical testing PP3, PP4, PM2_moderate, PM3_strong, PS4_moderate
Natera, Inc. RCV001827516 SCV002086457 likely pathogenic Gaucher disease 2020-12-18 no assertion criteria provided clinical testing

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