ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.6436A>C (p.Lys2146Gln)

dbSNP: rs1283976400
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521021 SCV000618444 likely pathogenic not provided 2017-05-01 criteria provided, single submitter clinical testing The K2146Q variant in the ANKRD11 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The K2146Q variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The K2146Q variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved in mammals. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret K2146Q as a likely pathogenic variant.

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