Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV002382663 | SCV002669209 | uncertain significance | Cardiovascular phenotype | 2024-10-19 | criteria provided, single submitter | clinical testing | The p.A2430V variant (also known as c.7289C>T), located in coding exon 38 of the ANK2 gene, results from a C to T substitution at nucleotide position 7289. The alanine at codon 2430 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. |
Labcorp Genetics |
RCV003647905 | SCV004510508 | uncertain significance | Long QT syndrome | 2023-05-10 | 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant  is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1758088). This variant has not been reported in the literature in individuals affected with ANK2-related conditions. This variant is present in population databases (rs373320489, gnomAD 0.0009%). This sequence change replaces alanine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 2430 of the ANK2 protein (p.Ala2430Val). |