ClinVar Miner

Submissions for variant NM_001130987.2(DYSF):c.3076G>C (p.Asp1026His)

dbSNP: rs200943384
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
Revvity Omics, Revvity RCV003146957 SCV003829658 uncertain significance not provided 2019-10-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003738374 SCV004522749 likely pathogenic Qualitative or quantitative defects of dysferlin 2023-09-08 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 2441128). This sequence change replaces aspartic acid, which is acidic and polar, with histidine, which is basic and polar, at codon 1008 of the DYSF protein (p.Asp1008His). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with limb-girdle muscular dystrophy (Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt DYSF protein function. 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.