Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001056590 | SCV001221040 | uncertain significance | Qualitative or quantitative defects of dysferlin | 2023-05-08 | 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. 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 not expected to disrupt DYSF protein function. ClinVar contains an entry for this variant (Variation ID: 852050). This variant has not been reported in the literature in individuals affected with DYSF-related conditions. This variant is present in population databases (rs756925596, gnomAD 0.004%). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 190 of the DYSF protein (p.Pro190Leu). |
Natera, |
RCV001273967 | SCV001457603 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2B | 2020-09-16 | no assertion criteria provided | clinical testing |