Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001217168 | SCV001389001 | uncertain significance | Hypertrophic cardiomyopathy 14 | 2022-02-07 | 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 946324). This variant has not been reported in the literature in individuals affected with MYH6-related conditions. This variant is present in population databases (rs527636904, gnomAD 0.01%). This sequence change replaces arginine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 906 of the MYH6 protein (p.Arg906Leu). 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. |
| Ambry Genetics | RCV002436831 | SCV002745047 | uncertain significance | Cardiovascular phenotype | 2020-09-25 | criteria provided, single submitter | clinical testing | The p.R906L variant (also known as c.2717G>T), located in coding exon 20 of the MYH6 gene, results from a G to T substitution at nucleotide position 2717. The arginine at codon 906 is replaced by leucine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |