ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.3625A>G (p.Lys1209Glu)

dbSNP: rs866638426
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521786 SCV000621241 uncertain significance not provided 2017-10-03 criteria provided, single submitter clinical testing The K1209E variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The K1209E variant is observed in 1/15256 (0.007%) alleles from individuals of African background (Lek et al., 2016). The K1209E 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. However, this substitution occurs at a position that is not conserved. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

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