Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001237716 | SCV001410489 | uncertain significance | Hypertrophic cardiomyopathy | 2019-11-02 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals with MYH7-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamine with glutamic acid at codon 1211 of the MYH7 protein (p.Gln1211Glu). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and glutamic acid. 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. 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"). |
| Ambry Genetics | RCV002451574 | SCV002615968 | uncertain significance | Cardiovascular phenotype | 2022-04-25 | criteria provided, single submitter | clinical testing | The p.Q1211E variant (also known as c.3631C>G), located in coding exon 25 of the MYH7 gene, results from a C to G substitution at nucleotide position 3631. The glutamine at codon 1211 is replaced by glutamic acid, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |