Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001232761 | SCV001405329 | uncertain significance | Hypertrophic cardiomyopathy | 2022-03-09 | criteria provided, single submitter | clinical testing | This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 1525 of the MYOM1 protein (p.Asp1525Asn). 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 959410). This variant has not been reported in the literature in individuals affected with MYOM1-related conditions. This variant is not present in population databases (gnomAD no frequency). |
| Ambry Genetics | RCV002339638 | SCV002638542 | uncertain significance | Inborn genetic diseases | 2021-12-08 | criteria provided, single submitter | clinical testing | The p.D1525N variant (also known as c.4573G>A), located in coding exon 33 of the MYOM1 gene, results from a G to A substitution at nucleotide position 4573. The aspartic acid at codon 1525 is replaced by asparagine, an amino acid with highly 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. |