Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001213616 | SCV001385253 | uncertain significance | Qualitative or quantitative defects of dysferlin | 2022-07-25 | criteria provided, single submitter | clinical testing | This sequence change replaces proline, which is neutral and non-polar, with serine, which is neutral and polar, at codon 529 of the DYSF protein (p.Pro529Ser). This variant is present in population databases (rs559177313, gnomAD 0.03%). 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: 943432). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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. |
Genome- |
RCV001563905 | SCV001786962 | uncertain significance | Miyoshi muscular dystrophy 1 | 2021-07-14 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001279897 | SCV001786963 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2B | 2021-07-14 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV001563906 | SCV001786964 | uncertain significance | Distal myopathy with anterior tibial onset | 2021-07-14 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001279897 | SCV001467033 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2B | 2020-05-08 | no assertion criteria provided | clinical testing |