Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000726165 | SCV000701274 | likely pathogenic | not provided | 2016-06-03 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000597376 | SCV000796175 | likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2B | 2017-12-04 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001214514 | SCV001386198 | pathogenic | Qualitative or quantitative defects of dysferlin | 2023-03-11 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. 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. ClinVar contains an entry for this variant (Variation ID: 288438). This missense change has been observed in individual(s) with dysferlinopathy (PMID: 16100712, 19528035, 21522182, 27602406). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 621 of the DYSF protein (p.Gly621Arg). |
Revvity Omics, |
RCV000726165 | SCV003832002 | likely pathogenic | not provided | 2022-04-02 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV003469244 | SCV004194177 | pathogenic | Miyoshi muscular dystrophy 1 | 2023-10-11 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000597376 | SCV002079834 | pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2B | 2021-10-06 | no assertion criteria provided | clinical testing |