ClinVar Miner

Submissions for variant NM_003803.4(MYOM1):c.2428C>T (p.Arg810Trp)

gnomAD frequency: 0.00006  dbSNP: rs776727177
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized 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).

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