ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.6923G>T (p.Gly2308Val) (rs1057522245)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000437342 SCV000526801 uncertain significance not provided 2016-04-07 criteria provided, single submitter clinical testing The G2308V variant in the ANKRD11 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. This variant was not observed in approximately 1400 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The G2308V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is not conserved, and in silico analysis predicts this variant likely does not alter the protein structure/function. We interpret G2308V as a variant of uncertain significance.

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