Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000547078 | SCV000659182 | uncertain significance | Dilated cardiomyopathy 1KK | 2017-04-10 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamine with proline at codon 559 of the MYPN protein (p.Gln559Pro). The glutamine residue is moderately conserved and there is a moderate physicochemical difference between glutamine and proline. 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: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15"). This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a MYPN-related disease. In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. |
| Fulgent Genetics, |
RCV002483512 | SCV002786947 | uncertain significance | Dilated cardiomyopathy 1KK; MYPN-related myopathy | 2021-07-26 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV004649209 | SCV005146204 | uncertain significance | Cardiovascular phenotype | 2024-04-27 | criteria provided, single submitter | clinical testing | The p.Q559P variant (also known as c.1676A>C), located in coding exon 9 of the MYPN gene, results from an A to C substitution at nucleotide position 1676. The glutamine at codon 559 is replaced by proline, 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. Based on the available evidence, the clinical significance of this variant remains unclear. |