Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000647075 | SCV000768862 | uncertain significance | Hypertrophic cardiomyopathy 14 | 2020-10-29 | 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. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with MYH6-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change replaces isoleucine with valine at codon 591 of the MYH6 protein (p.Ile591Val). The isoleucine residue is weakly conserved and there is a small physicochemical difference between isoleucine and valine. |
Ambry Genetics | RCV002397264 | SCV002714754 | uncertain significance | Cardiovascular phenotype | 2022-09-05 | criteria provided, single submitter | clinical testing | The p.I591V variant (also known as c.1771A>G), located in coding exon 13 of the MYH6 gene, results from an A to G substitution at nucleotide position 1771. The isoleucine at codon 591 is replaced by valine, an amino acid with highly similar properties. This amino acid position is conserved. 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. |