Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001319278 | SCV001510017 | uncertain significance | Dilated cardiomyopathy 1KK | 2022-03-09 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with MYPN-related conditions. This sequence change replaces serine, which is neutral and polar, with threonine, which is neutral and polar, at codon 1276 of the MYPN protein (p.Ser1276Thr). This variant is not present in population databases (gnomAD no frequency). ClinVar contains an entry for this variant (Variation ID: 1019789). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The threonine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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. |
| Ambry Genetics | RCV004987069 | SCV005459042 | uncertain significance | Cardiovascular phenotype | 2024-10-27 | criteria provided, single submitter | clinical testing | The p.S1276T variant (also known as c.3826T>A), located in coding exon 19 of the MYPN gene, results from a T to A substitution at nucleotide position 3826. The serine at codon 1276 is replaced by threonine, 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. |