Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000731617 | SCV000859461 | uncertain significance | not provided | 2018-02-06 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002535224 | SCV003258444 | uncertain significance | Qualitative or quantitative defects of dysferlin | 2021-08-31 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine with cysteine at codon 1413 of the DYSF protein (p.Arg1413Cys). The arginine residue is moderately conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs749028996, ExAC 0.002%). 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: 595932). 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. |
Revvity Omics, |
RCV000731617 | SCV003831251 | uncertain significance | not provided | 2021-10-12 | criteria provided, single submitter | clinical testing |