Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001203588 | SCV001374761 | uncertain significance | Duchenne muscular dystrophy | 2019-08-02 | criteria provided, single submitter | clinical testing | This sequence change replaces serine with proline at codon 988 of the DMD protein (p.Ser988Pro). The serine residue is highly conserved and there is a moderate physicochemical difference between serine and proline. This variant is not present in population databases (ExAC no frequency). This variant has been reported in individuals in the Leiden Open-source Variation Database (PMID: 21520333). 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. |
Laboratory of Diagnostic Genome Analysis, |
RCV001572693 | SCV001797453 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, |
RCV001572693 | SCV001956881 | uncertain significance | not provided | no assertion criteria provided | clinical testing | ||
Natera, |
RCV001833791 | SCV002089644 | uncertain significance | Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency | 2021-02-23 | no assertion criteria provided | clinical testing |