Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000621952 | SCV000736175 | uncertain significance | Cardiovascular phenotype | 2017-12-12 | criteria provided, single submitter | clinical testing | The p.Q1270E variant (also known as c.3808C>G), located in coding exon 19 of the MYPN gene, results from a C to G substitution at nucleotide position 3808. The glutamine at codon 1270 is replaced by glutamic acid, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. 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 variant remains unclear. |
| Labcorp Genetics |
RCV002516360 | SCV002947043 | uncertain significance | Dilated cardiomyopathy 1KK | 2024-10-18 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamine, which is neutral and polar, with glutamic acid, which is acidic and polar, at codon 1270 of the MYPN protein (p.Gln1270Glu). This variant is present in population databases (rs730880169, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with MYPN-related conditions. ClinVar contains an entry for this variant (Variation ID: 180451). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. 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. |
| Blueprint Genetics | RCV000157385 | SCV000207123 | uncertain significance | Primary dilated cardiomyopathy | 2014-09-29 | no assertion criteria provided | clinical testing |