ClinVar Miner

Submissions for variant NM_001148.6(ANK2):c.6598G>A (p.Gly2200Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV004764358 SCV005373658 uncertain significance Cardiac arrhythmia, ankyrin-B-related 2023-05-20 criteria provided, single submitter clinical testing The observed missense c.6598G>A(p.Gly2200Ser) variant in ANK2 gene has not been reported previously as a pathogenic variant nor a benign variant, to our knowledge. The p.Gly2200Ser variant has been reported with allele frequency of 0.0004% in gnomAD Exomes. This variant has not been submitted to the ClinVar database. Multiple lines of computational evidences (SIFT - Damaging and MutationTaster - Disease causing) predict a damaging effect on protein structure and function for this variant. The reference amino acid at this position on ANK2 gene is predicted as conserved by GERP++ and/or PhyloP across 100 vertebrates. The amino acid Gly at position 2200 is changed to a Ser changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as a Variant of Uncertain Significance (VUS).

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