Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV001193339 | SCV001362093 | likely pathogenic | Gaucher disease | 2019-02-25 | criteria provided, single submitter | clinical testing | Variant summary: GBA c.914delC (p.Pro305LeufsX31) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory (eg. c.1029delT, p.Tyr343fsX1; c.1192C>T, p.Arg398X; c.1357C>T, p.Gln453X). The variant allele was found at a frequency of 4.1e-06 in 245970 control chromosomes (gnomAD). c.914delC has been reported in the literature in an individual affected with Gaucher Disease (Beutler_1995). To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. 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. |
| Fulgent Genetics, |
RCV002504219 | SCV002816623 | 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 | 2022-01-24 | criteria provided, single submitter | clinical testing |