ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.2260G>A (p.Ala754Thr)

gnomAD frequency: 0.00001  dbSNP: rs137927542
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital RCV001732108 SCV001984023 uncertain significance Muscular dystrophy, limb-girdle, autosomal dominant 4 2020-09-02 criteria provided, single submitter clinical testing
GeneDx RCV001786462 SCV002028484 uncertain significance not provided 2021-05-26 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Bioscientia Institut fuer Medizinische Diagnostik GmbH, Sonic Healthcare RCV001280806 SCV001468141 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2020-06-16 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.