ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.2036_2037del (p.Thr679fs)

dbSNP: rs886042418
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
Eurofins Ntd Llc (ga) RCV000725107 SCV000334060 pathogenic not provided 2018-06-01 criteria provided, single submitter clinical testing
Counsyl RCV000345653 SCV000799128 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A 2018-04-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000345653 SCV001582821 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A 2025-01-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr679Serfs*20) in the CAPN3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CAPN3 are known to be pathogenic (PMID: 10330340, 15689361). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with limb-girdle muscular dystrophy (PMID: 19364062). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 282536). For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV000725107 SCV002018090 pathogenic not provided 2019-06-11 criteria provided, single submitter clinical testing
Natera, Inc. RCV000345653 SCV002085545 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A 2021-06-22 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.