Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000605334 | SCV000713213 | uncertain significance | not specified | 2017-05-02 | criteria provided, single submitter | clinical testing | The p.Ser1149Arg variant in MYH6 has not been previously reported in individuals with cardiomyopathy, but has been identified in 0.10% (10/9638) of Ashkenazi Je wish chromosomes by the genome Aggregation Database (gnomAD, http://gnomad.broad institute.org/; dbSNP rs564367705). Computational prediction tools and conservat ion analysis suggest that the p.Ser1149Arg variant may impact the protein, thoug h this information is not predictive enough to determine pathogenicity. In summa ry, the clinical significance of the p.Ser1149Arg variant is uncertain. |
CHEO Genetics Diagnostic Laboratory, |
RCV001170239 | SCV001332799 | likely benign | Cardiomyopathy | 2017-12-22 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002062143 | SCV002353114 | likely benign | Hypertrophic cardiomyopathy 14 | 2024-01-08 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002456319 | SCV002615406 | likely benign | Cardiovascular phenotype | 2021-09-13 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |