Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001919799 | SCV002160591 | uncertain significance | Hypertrophic cardiomyopathy 14 | 2022-01-27 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). 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 affected with MYH6-related conditions. This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 1233 of the MYH6 protein (p.Val1233Ile). |
Ambry Genetics | RCV002343979 | SCV002621862 | uncertain significance | Cardiovascular phenotype | 2023-05-15 | criteria provided, single submitter | clinical testing | The p.V1233I variant (also known as c.3697G>A), located in coding exon 24 of the MYH6 gene, results from a G to A substitution at nucleotide position 3697. The valine at codon 1233 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. 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. |
Fulgent Genetics, |
RCV002506981 | SCV002813311 | uncertain significance | Hypertrophic cardiomyopathy 1; Dilated cardiomyopathy 1EE; Hypertrophic cardiomyopathy 14; Atrial septal defect 3; Sick sinus syndrome 3, susceptibility to | 2021-10-11 | criteria provided, single submitter | clinical testing | |
Women's Health and Genetics/Laboratory Corporation of America, |
RCV003331226 | SCV004038098 | uncertain significance | not specified | 2023-08-19 | criteria provided, single submitter | clinical testing |