ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.7927G>A (p.Glu2643Lys) (rs1064796264)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000484832 SCV000572808 uncertain significance not provided 2018-05-17 criteria provided, single submitter clinical testing The E2643K variant in the ANKRD11 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The E2643K variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The E2643K variant 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 occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret E2643K as a variant of uncertain significance

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