Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001234230 | SCV001406865 | uncertain significance | Duchenne muscular dystrophy | 2022-07-26 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). This sequence change replaces threonine, which is neutral and polar, with serine, which is neutral and polar, at codon 2932 of the DMD protein (p.Thr2932Ser). This variant has not been reported in the literature in individuals affected with DMD-related conditions. ClinVar contains an entry for this variant (Variation ID: 960661). 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. |
Fulgent Genetics, |
RCV002504319 | SCV002816932 | uncertain significance | Becker muscular dystrophy; Duchenne muscular dystrophy; Dilated cardiomyopathy 3B | 2021-07-23 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001834028 | SCV002080238 | uncertain significance | Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency | 2020-09-28 | no assertion criteria provided | clinical testing |