Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
CHEO Genetics Diagnostic Laboratory, |
RCV001171141 | SCV001333825 | uncertain significance | Cardiomyopathy | 2018-03-15 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001306494 | SCV001495868 | uncertain significance | Hypertrophic cardiomyopathy | 2020-08-17 | criteria provided, single submitter | clinical testing | Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The serine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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. This variant has not been reported in the literature in individuals with MYBPC3-related conditions. ClinVar contains an entry for this variant (Variation ID: 915781). This variant is present in population databases (rs758901980, ExAC 0.002%). This sequence change replaces proline with serine at codon 459 of the MYBPC3 protein (p.Pro459Ser). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and serine. |
Fulgent Genetics, |
RCV002497602 | SCV002806736 | uncertain significance | Hypertrophic cardiomyopathy 4; Left ventricular noncompaction 10 | 2021-08-26 | criteria provided, single submitter | clinical testing |