Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001366272 | SCV001562571 | uncertain significance | Hypertrophic cardiomyopathy 1 | 2021-07-13 | 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 output the following: SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The valine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with MYLK2-related conditions. This variant is present in population databases (rs763316056, ExAC 0.02%). This sequence change replaces alanine with valine at codon 102 of the MYLK2 protein (p.Ala102Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine. |
| Fulgent Genetics, |
RCV001366272 | SCV002780056 | uncertain significance | Hypertrophic cardiomyopathy 1 | 2021-10-12 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV004036968 | SCV003872490 | uncertain significance | not specified | 2023-02-02 | criteria provided, single submitter | clinical testing | The p.A102V variant (also known as c.305C>T), located in coding exon 2 of the MYLK2 gene, results from a C to T substitution at nucleotide position 305. The alanine at codon 102 is replaced by valine, 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Gene |
RCV004762127 | SCV005369918 | uncertain significance | not provided | 2023-05-30 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |