ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.4547G>C (p.Trp1516Ser)

dbSNP: rs755781770
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001299692 SCV001488794 uncertain significance Qualitative or quantitative defects of dysferlin 2020-07-07 criteria provided, single submitter clinical testing 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. 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"). This variant has not been reported in the literature in individuals with DYSF-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces tryptophan with serine at codon 1477 of the DYSF protein (p.Trp1477Ser). The tryptophan residue is highly conserved and there is a large physicochemical difference between tryptophan and serine.
Revvity Omics, Revvity RCV003145523 SCV003830902 uncertain significance not provided 2019-07-17 criteria provided, single submitter 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.