ClinVar Miner

Submissions for variant NM_000157.4(GBA1):c.1346C>T (p.Thr449Met)

gnomAD frequency: 0.00002  dbSNP: rs757930613
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genome-Nilou Lab RCV001563763 SCV001786782 uncertain significance Gaucher disease type I 2021-07-14 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001563764 SCV001786783 uncertain significance Gaucher disease type II 2021-07-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002495899 SCV002790226 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 2021-12-07 criteria provided, single submitter clinical testing
GeneDx RCV003128785 SCV003805864 uncertain significance not provided 2022-08-16 criteria provided, single submitter clinical testing Reported previously in control sample cohorts for both Parkinson disease and Gaucher disease and not seen in the affected patients (Wolf et al., 2018; Ruskey et al., 2019); In silico analysis supports that this missense variant does not alter protein structure/function; Also known as p.(T410M); This variant is associated with the following publications: (PMID: 29842932, 29100779)

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