Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000618919 | SCV000740219 | uncertain significance | Cardiovascular phenotype | 2022-01-10 | criteria provided, single submitter | clinical testing | The p.G1182S variant (also known as c.3544G>A), located in coding exon 17 of the MYPN gene, results from a G to A substitution at nucleotide position 3544. The glycine at codon 1182 is replaced by serine, an amino acid with similar properties. This amino acid position is highly conserved in available vertebrate species. 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 |
RCV002531865 | SCV003256923 | uncertain significance | Dilated cardiomyopathy 1KK | 2022-02-09 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with MYPN-related conditions. 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 520374). This variant is present in population databases (rs777875865, gnomAD 0.008%). This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 1182 of the MYPN protein (p.Gly1182Ser). |