Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001232486 | SCV001405048 | uncertain significance | Qualitative or quantitative defects of dysferlin | 2021-09-01 | criteria provided, single submitter | clinical testing | This sequence change replaces methionine with isoleucine at codon 626 of the DYSF protein (p.Met626Ile). The methionine residue is weakly conserved and there is a small physicochemical difference between methionine and isoleucine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with DYSF-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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. |
Gene |
RCV003442795 | SCV004168088 | uncertain significance | not provided | 2023-04-19 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 29245897) |
Natera, |
RCV001834016 | SCV002079835 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2B | 2020-10-06 | no assertion criteria provided | clinical testing |