Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001326632 | SCV001517670 | uncertain significance | Dilated cardiomyopathy 1KK | 2023-10-03 | criteria provided, single submitter | clinical testing | This sequence change replaces serine, which is neutral and polar, with glycine, which is neutral and non-polar, at codon 591 of the MYPN protein (p.Ser591Gly). This variant is present in population databases (rs767800921, gnomAD 0.05%). 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: 1026210). 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. 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. |
| Fulgent Genetics, |
RCV002504512 | SCV002814531 | uncertain significance | Dilated cardiomyopathy 1KK; MYPN-related myopathy | 2021-08-23 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV003382528 | SCV004098526 | uncertain significance | Cardiovascular phenotype | 2023-08-29 | criteria provided, single submitter | clinical testing | The p.S591G variant (also known as c.1771A>G), located in coding exon 9 of the MYPN gene, results from an A to G substitution at nucleotide position 1771. The serine at codon 591 is replaced by glycine, 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |