Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001068327 | SCV001233433 | uncertain significance | Hypertrophic cardiomyopathy | 2022-03-09 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 161 of the MYOM1 protein (p.Glu161Lys). This variant is present in population databases (no rsID available, gnomAD 0.009%). 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: "Benign"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 861743). This variant has not been reported in the literature in individuals affected with MYOM1-related conditions. |
| Ambry Genetics | RCV002339339 | SCV002638003 | uncertain significance | Inborn genetic diseases | 2022-06-22 | criteria provided, single submitter | clinical testing | The p.E161K variant (also known as c.481G>A), located in coding exon 3 of the MYOM1 gene, results from a G to A substitution at nucleotide position 481. The glutamic acid at codon 161 is replaced by lysine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |