Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001344107 | SCV001538143 | uncertain significance | Qualitative or quantitative defects of dysferlin | 2022-06-22 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 1806 of the DYSF protein (p.Arg1806Gln). This variant is present in population databases (rs533781748, gnomAD 0.04%). 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: 1040455). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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. |
Revvity Omics, |
RCV003145592 | SCV003829615 | uncertain significance | not provided | 2020-06-30 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001825900 | SCV002080326 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2B | 2020-03-22 | no assertion criteria provided | clinical testing |