Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001362784 | SCV001558820 | uncertain significance | Dilated cardiomyopathy 1KK | 2020-10-24 | 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with MYPN-related conditions. This variant is present in population databases (rs781011786, ExAC 0.002%). This sequence change replaces arginine with serine at codon 1218 of the MYPN protein (p.Arg1218Ser). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and serine. |
| Ambry Genetics | RCV003298575 | SCV003995700 | uncertain significance | Cardiovascular phenotype | 2023-04-17 | criteria provided, single submitter | clinical testing | The p.R1218S variant (also known as c.3654G>C), located in coding exon 17 of the MYPN gene, results from a G to C substitution at nucleotide position 3654. The arginine at codon 1218 is replaced by serine, 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. |