ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.1543G>A (p.Gly515Arg) (rs150226817)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics,PreventionGenetics RCV000245397 SCV000301870 likely benign not specified criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000724737 SCV000331893 uncertain significance not provided 2018-08-10 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000245397 SCV000612636 uncertain significance not specified 2016-12-31 criteria provided, single submitter clinical testing
Invitae RCV000692602 SCV000820432 uncertain significance Limb-girdle muscular dystrophy, type 2A 2019-10-25 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 515 of the CAPN3 protein (p.Gly515Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is present in population databases (rs150226817, ExAC 0.1%). This variant has not been reported in the literature in individuals with CAPN3-related disease. ClinVar contains an entry for this variant (Variation ID: 254861). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000724737 SCV001247172 uncertain significance not provided 2019-08-01 criteria provided, single submitter clinical testing
Natera, Inc. RCV000692602 SCV001460837 uncertain significance Limb-girdle muscular dystrophy, type 2A 2020-04-17 no assertion criteria provided clinical testing

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.