Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Fulgent Genetics, |
RCV002490270 | SCV002800757 | uncertain significance | Dilated cardiomyopathy 1KK; MYPN-related myopathy | 2021-09-24 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV001943170 | SCV002181501 | uncertain significance | Dilated cardiomyopathy 1KK | 2023-08-04 | criteria provided, single submitter | clinical testing | 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. ClinVar contains an entry for this variant (Variation ID: 1412339). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MYPN-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The alanine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This sequence change replaces proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 125 of the MYPN protein (p.Pro125Ala). |