ClinVar Miner

Submissions for variant NM_003494.4(DYSF):c.1486C>T (p.Pro496Ser)

dbSNP: rs368577086
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000648009 SCV000769819 uncertain significance Qualitative or quantitative defects of dysferlin 2021-08-04 criteria provided, single submitter clinical testing This sequence change replaces proline with serine at codon 496 of the DYSF protein (p.Pro496Ser). The proline residue is weakly conserved and there is a moderate physicochemical difference between proline and serine. This variant is present in population databases (rs368577086, ExAC 0.004%). This variant has not been reported in the literature in individuals affected with DYSF-related conditions. 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.
Natera, Inc. RCV001835047 SCV002079810 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type 2B 2019-11-11 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.