Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001339333 | SCV001533067 | uncertain significance | Hypertrophic cardiomyopathy 14 | 2020-08-27 | 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: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with MYH6-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces threonine with alanine at codon 1129 of the MYH6 protein (p.Thr1129Ala). The threonine residue is weakly conserved and there is a small physicochemical difference between threonine and alanine. |
| Ambry Genetics | RCV004988559 | SCV005451739 | uncertain significance | Cardiovascular phenotype | 2024-11-18 | criteria provided, single submitter | clinical testing | The p.T1129A variant (also known as c.3385A>G), located in coding exon 24 of the MYH6 gene, results from an A to G substitution at nucleotide position 3385. The threonine at codon 1129 is replaced by alanine, 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. |