Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV006347690 | SCV007215570 | uncertain significance | Cardiovascular phenotype | 2025-10-29 | criteria provided, single submitter | clinical testing | The p.R482S variant (also known as c.1446G>T), located in coding exon 6 of the MYPN gene, results from a G to T substitution at nucleotide position 1446. The arginine at codon 482 is replaced by serine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear. |
| Labcorp Genetics |
RCV001326982 | SCV001518039 | uncertain significance | Dilated cardiomyopathy 1KK | 2023-08-24 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with serine, which is neutral and polar, at codon 482 of the MYPN protein (p.Arg482Ser). 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. 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 disruptive. ClinVar contains an entry for this variant (Variation ID: 1026519). This variant has not been reported in the literature in individuals affected with MYPN-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.009%). |