Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV003649041 | SCV004549371 | uncertain significance | Long QT syndrome | 2023-11-01 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with leucine, which is neutral and non-polar, at codon 1936 of the ANK2 protein (p.Arg1936Leu). This variant is present in population databases (rs773045751, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with ANK2-related conditions. 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 disruptive. 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. |
Ambry Genetics | RCV004374299 | SCV005016663 | uncertain significance | Cardiovascular phenotype | 2024-01-11 | criteria provided, single submitter | clinical testing | The p.R1936L variant (also known as c.5807G>T), located in coding exon 38 of the ANK2 gene, results from a G to T substitution at nucleotide position 5807. The arginine at codon 1936 is replaced by leucine, an amino acid with dissimilar 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. |