Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clinical Center for Gene Diagnosis and Therapy, |
RCV003319262 | SCV003932398 | uncertain significance | Primary dilated cardiomyopathy | 2023-06-01 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV003629258 | SCV004425979 | uncertain significance | Hypertrophic cardiomyopathy 14 | 2023-07-16 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1411 of the MYH6 protein (p.Ala1411Thr). 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 MYH6 protein function. This missense change has been observed in individual(s) with hypertrophic cardiomyopathy (PMID: 33658040). This variant is present in population databases (rs146172839, gnomAD 0.03%). |