Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001229365 | SCV001401808 | uncertain significance | Hypertrophic cardiomyopathy | 2022-04-24 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with MYOM1-related conditions. 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 956537). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces lysine, which is basic and polar, with asparagine, which is neutral and polar, at codon 117 of the MYOM1 protein (p.Lys117Asn). |
| Ambry Genetics | RCV002451539 | SCV002617878 | uncertain significance | Inborn genetic diseases | 2022-04-25 | criteria provided, single submitter | clinical testing | The p.K117N variant (also known as c.351G>C), located in coding exon 2 of the MYOM1 gene, results from a G to C substitution at nucleotide position 351. The lysine at codon 117 is replaced by asparagine, 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. |