Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000158856 | SCV000208791 | uncertain significance | not provided | 2020-10-19 | criteria provided, single submitter | clinical testing | Has not been previously published as pathogenic or benign to our knowledge; Not observed in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function |
Invitae | RCV001850227 | SCV002188078 | uncertain significance | Hypertrophic cardiomyopathy | 2021-05-08 | criteria provided, single submitter | clinical testing | Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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 MYH7-related conditions. ClinVar contains an entry for this variant (Variation ID: 181381). This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamic acid with lysine at codon 987 of the MYH7 protein (p.Glu987Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. |