ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.4667C>G (p.Ala1556Gly) (rs781186923)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000720009 SCV000850883 likely benign Autism spectrum disorder 2017-10-24 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: In silico models in agreement (benign),Does not segregate with disease in family study (genes with incomplete penetrance),Structural Evidence
GeneDx RCV000440317 SCV000529292 uncertain significance not provided 2016-06-24 criteria provided, single submitter clinical testing The A1556G variant in the ANKRD11 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The A1556G variant was not observed in approximately 6500 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 A1556G 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. In silico analysis predicts this variant likely does not alter the protein structure/function. We interpret A1556G as a variant of uncertain significance.

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