ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.4627G>A (p.Val1543Ile)

gnomAD frequency: 0.00055  dbSNP: rs143895253
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000552425 SCV000649699 uncertain significance Qualitative or quantitative defects of dysferlin 2022-08-16 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 1504 of the DYSF protein (p.Val1504Ile). This variant is present in population databases (rs143895253, gnomAD 0.2%). This variant has not been reported in the literature in individuals affected with DYSF-related conditions. ClinVar contains an entry for this variant (Variation ID: 471308). 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Eurofins Ntd Llc (ga) RCV000595695 SCV000701740 likely benign not specified 2016-09-28 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001507565 SCV001713186 uncertain significance not provided 2019-12-30 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001507565 SCV003831282 uncertain significance not provided 2023-05-29 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003960357 SCV004770635 likely benign DYSF-related condition 2023-06-13 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Natera, Inc. RCV001274843 SCV001459359 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2019-12-27 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.