ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.133G>A (p.Ala45Thr) (rs774048743)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000201177 SCV000255650 pathogenic Limb-girdle muscular dystrophy, type 2A 2014-02-04 criteria provided, single submitter clinical testing
Counsyl RCV000201177 SCV000793199 likely pathogenic Limb-girdle muscular dystrophy, type 2A 2017-08-04 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000762947 SCV000893371 pathogenic Limb-girdle muscular dystrophy, type 2A; Muscular dystrophy, limb-girdle, autosomal dominant 4 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000201177 SCV001224973 likely pathogenic Limb-girdle muscular dystrophy, type 2A 2020-08-31 criteria provided, single submitter clinical testing This sequence change replaces alanine with threonine at codon 45 of the CAPN3 protein (p.Ala45Thr). The alanine residue is moderately conserved and there is a small physicochemical difference between alanine and threonine. This variant is present in population databases (rs774048743, ExAC 0.003%). This variant has been observed in several individuals affected with autosomal recessive limb-girdle muscular dystrophy (PMID: 15351423, 16650086, 19556129, 18055493). ClinVar contains an entry for this variant (Variation ID: 217148). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: Deleterious; PolyPhen-2: Probably Damaging; Align-GVGD: Class C0). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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.