Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001067600 | SCV001232668 | uncertain significance | Duchenne muscular dystrophy | 2022-10-24 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt DMD protein function. ClinVar contains an entry for this variant (Variation ID: 861147). This variant is also known as c.1554T>A. This missense change has been observed in individual(s) with Duchenne and Becker muscular dystrophies (PMID: 24300647). This sequence change replaces valine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 505 of the DMD protein (p.Val505Asp). |
Natera, |
RCV001836107 | SCV002090359 | uncertain significance | Becker muscular dystrophy; Duchenne muscular dystrophy; Cardiomyopathy; Dystrophin deficiency | 2020-10-12 | no assertion criteria provided | clinical testing |