ClinVar Miner

Submissions for variant NM_001148.6(ANK2):c.7255G>A (p.Glu2419Lys) (rs752704424)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000171379 SCV000573645 uncertain significance not provided 2017-12-11 criteria provided, single submitter clinical testing The E2419K variant of uncertain significance in the ANK2 gene has not been published as pathogenic or benign to our knowledge. This variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). Furthermore, E2419K is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution also occurs at a position where only amino acids with similar properties to glutamate are tolerated across species. In addition, the majority of in silico tools predict E2419K is probably damaging the protein structure/function. Moreover, no missense variants in nearby residues have been reported in the Human Gene Mutation Database in association with arrhythmia (Stenson et al., 2014).Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or rare benign.
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre RCV000171379 SCV000221576 likely pathogenic not provided no assertion criteria provided research

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