Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000621303 | SCV000737294 | uncertain significance | Cardiovascular phenotype | 2023-05-26 | criteria provided, single submitter | clinical testing | The p.D1017N variant (also known as c.3049G>A), located in coding exon 21 of the MYH6 gene, results from a G to A substitution at nucleotide position 3049. The aspartic acid at codon 1017 is replaced by asparagine, an amino acid with highly 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 |
RCV001039168 | SCV001202682 | uncertain significance | Hypertrophic cardiomyopathy 14 | 2019-12-18 | 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. 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"). This variant has not been reported in the literature in individuals with MYH6-related conditions. ClinVar contains an entry for this variant (Variation ID: 519174). This variant is not present in population databases (ExAC no frequency). This sequence change replaces aspartic acid with asparagine at codon 1017 of the MYH6 protein (p.Asp1017Asn). The aspartic acid residue is weakly conserved and there is a small physicochemical difference between aspartic acid and asparagine. |