Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000733159 | SCV000861189 | uncertain significance | not provided | 2018-05-14 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000793069 | SCV000932405 | uncertain significance | Qualitative or quantitative defects of dysferlin | 2022-08-05 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 1092 of the DYSF protein (p.Arg1092Cys). This variant is present in population databases (rs758284713, gnomAD 0.04%), including at least one homozygous and/or hemizygous individual. 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: 597130). 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 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, |
RCV001272829 | SCV001455220 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2B | 2020-01-24 | no assertion criteria provided | clinical testing |