Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001238123 | SCV001410920 | uncertain significance | Qualitative or quantitative defects of dysferlin | 2021-09-02 | criteria provided, single submitter | clinical testing | This sequence change replaces isoleucine with threonine at codon 1838 of the DYSF protein (p.Ile1838Thr). The isoleucine residue is highly conserved and there is a moderate physicochemical difference between isoleucine and threonine. This variant is present in population databases (rs191052325, ExAC 0.005%). 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 disruptive. 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. |
Natera, |
RCV001828896 | SCV002080331 | uncertain significance | Autosomal recessive limb-girdle muscular dystrophy type 2B | 2020-01-17 | no assertion criteria provided | clinical testing |