Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000705895 | SCV000834912 | uncertain significance | Dilated cardiomyopathy 1KK | 2022-12-02 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 581938). 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 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. This variant has not been reported in the literature in individuals affected with MYPN-related conditions. This variant is present in population databases (rs780584298, gnomAD 0.02%). This sequence change replaces serine, which is neutral and polar, with threonine, which is neutral and polar, at codon 719 of the MYPN protein (p.Ser719Thr). |
| Ambry Genetics | RCV004985092 | SCV005459008 | uncertain significance | Cardiovascular phenotype | 2024-10-15 | criteria provided, single submitter | clinical testing | The p.S719T variant (also known as c.2156G>C), located in coding exon 10 of the MYPN gene, results from a G to C substitution at nucleotide position 2156. The serine at codon 719 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. |