ClinVar Miner

Submissions for variant NM_001148.6(ANK2):c.7582A>G (p.Met2528Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003648041 SCV004374342 uncertain significance Long QT syndrome 2023-08-05 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 2528 of the ANK2 protein (p.Met2528Val). 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: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. This variant has not been reported in the literature in individuals affected with ANK2-related conditions. This variant is present in population databases (rs781543236, gnomAD 0.0009%).
Ambry Genetics RCV004636786 SCV005134972 uncertain significance Cardiovascular phenotype 2024-03-27 criteria provided, single submitter clinical testing The p.M2528V variant (also known as c.7582A>G), located in coding exon 38 of the ANK2 gene, results from an A to G substitution at nucleotide position 7582. The methionine at codon 2528 is replaced by valine, an amino acid with highly 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 alteration remains unclear.

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