ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.2719_2730delinsT (p.Arg906_Lys907insTer) (rs886041539)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000283021 SCV000330213 pathogenic not provided 2016-02-29 criteria provided, single submitter clinical testing The c.2719_2730del12insT pathogenic variant in the ANKRD11 gene has been not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.2719_2730del12insT variant results in the replacement of the normal Lysine residue at position 907 with a premature Stop codon, denoted p.Lys907Ter. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.2719_2730del12insT variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.2719_2730del12insT as a pathogenic variant.

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