ClinVar Miner

Submissions for variant NM_000157.4(GBA):c.914del (p.Pro305fs)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 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.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.