Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV003164103 | SCV003854100 | uncertain significance | Cardiovascular phenotype | 2025-10-23 | criteria provided, single submitter | clinical testing | The p.S340C variant (also known as c.1019C>G), located in coding exon 2 of the MYPN gene, results from a C to G substitution at nucleotide position 1019. The serine at codon 340 is replaced by cysteine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Labcorp Genetics |
RCV001864698 | SCV002122981 | uncertain significance | Dilated cardiomyopathy 1KK | 2023-07-10 | criteria provided, single submitter | clinical testing | This sequence change replaces serine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 340 of the MYPN protein (p.Ser340Cys). This variant is present in population databases (rs777080663, gnomAD 0.003%). 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: 1359354). 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. |