Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000692278 | SCV000820092 | uncertain significance | Hypertrophic cardiomyopathy | 2021-07-20 | criteria provided, single submitter | clinical testing | 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. Experimental studies have shown that this missense change affects MYH7 protein function (PMID: 24047955). 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: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 571204). This missense change has been observed in individual(s) with hypertrophic cardiomyopathy (HCM) (PMID: 11968089, 22765922). This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamic acid with lysine at codon 1555 of the MYH7 protein (p.Glu1555Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. |
CHEO Genetics Diagnostic Laboratory, |
RCV003150333 | SCV003838747 | likely pathogenic | Cardiomyopathy | 2021-08-11 | criteria provided, single submitter | clinical testing |