Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000825987 | SCV000967475 | uncertain significance | not specified | 2018-03-14 | criteria provided, single submitter | clinical testing | The p.Arg810Trp variant in MYOM1 has not been previously reported in individuals with cardiomyopathy, but has been identified in 4/276752 chromosomes by the Gen ome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org; dbSNP rs7767 27177). Computational prediction tools and conservation analysis suggest that th e p.Arg810Trp variant may impact the protein, though this information is not pre dictive enough to determine pathogenicity. In summary, the clinical significance of the p.Arg810Trp variant is uncertain. ACMG/AMP Criteria applied: PP3, PM2. |
Invitae | RCV001309718 | SCV001499225 | uncertain significance | Hypertrophic cardiomyopathy | 2023-08-25 | criteria provided, single submitter | clinical testing | This variant is present in population databases (rs776727177, gnomAD 0.004%). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on MYOM1 protein function. ClinVar contains an entry for this variant (Variation ID: 667286). This variant has not been reported in the literature in individuals affected with MYOM1-related conditions. This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 810 of the MYOM1 protein (p.Arg810Trp). |