ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.2329A>G (p.Ile777Val) (rs149969786)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000644992 SCV000766728 uncertain significance Limb-girdle muscular dystrophy, type 2A 2018-07-27 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 777 of the CAPN3 protein (p.Ile777Val). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and valine. This variant is present in population databases (rs149969786, ExAC 0.01%). This variant has been reported in an individual affected with distal posterior limb muscle atrophy and weakness (PMID: 27671536). ClinVar contains an entry for this variant (Variation ID: 191056). 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 tolerated, 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.
Counsyl RCV000644992 SCV000800486 uncertain significance Limb-girdle muscular dystrophy, type 2A 2017-01-03 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000171232 SCV000860850 uncertain significance not provided 2018-04-25 criteria provided, single submitter clinical testing
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre RCV000171232 SCV000221429 likely pathogenic not provided no assertion criteria provided research
Natera, Inc. RCV000644992 SCV001456377 uncertain significance Limb-girdle muscular dystrophy, type 2A 2020-09-16 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.