ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.402del (p.Ile135fs)

dbSNP: rs746935735
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
Eurofins Ntd Llc (ga) RCV000725864 SCV000340079 pathogenic not provided 2016-03-03 criteria provided, single submitter clinical testing
Counsyl RCV000310267 SCV000485600 likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A 2016-10-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000310267 SCV001405152 pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2A 2023-05-11 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 286591). This premature translational stop signal has been observed in individuals with autosomal recessive limb-girdle muscular dystrophy (PMID: 9150160, 21204801). This variant is present in population databases (rs746935735, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Ile135Leufs*4) 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).

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.