Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000383833 | SCV000345130 | uncertain significance | not provided | 2016-08-30 | criteria provided, single submitter | clinical testing | |
Athena Diagnostics Inc | RCV000383833 | SCV002770756 | uncertain significance | not provided | 2022-08-22 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002519343 | SCV003310016 | uncertain significance | Qualitative or quantitative defects of dysferlin | 2021-10-06 | criteria provided, single submitter | clinical testing | This sequence change replaces phenylalanine with serine at codon 1135 of the DYSF protein (p.Phe1135Ser). The phenylalanine residue is moderately conserved and there is a large physicochemical difference between phenylalanine and serine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with DYSF-related conditions. ClinVar contains an entry for this variant (Variation ID: 290557). 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: "Deleterious"; PolyPhen-2: "Probably 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. |