ClinVar Miner

Submissions for variant NM_000070.3(CAPN3):c.584A>G (p.Asn195Ser)

dbSNP: rs148855999
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) RCV000178033 SCV000230018 uncertain significance not provided 2017-06-16 criteria provided, single submitter clinical testing
Invitae RCV001242627 SCV001415726 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2022-06-13 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 195 of the CAPN3 protein (p.Asn195Ser). This variant is present in population databases (rs148855999, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with CAPN3-related conditions. ClinVar contains an entry for this variant (Variation ID: 197101). 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. 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.
Revvity Omics, Revvity RCV000178033 SCV003828933 uncertain significance not provided 2022-05-12 criteria provided, single submitter clinical testing
GeneDx RCV000178033 SCV004031030 uncertain significance not provided 2023-07-27 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Natera, Inc. RCV001242627 SCV002094450 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2A 2019-10-28 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.