ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.7552C>T (p.Gln2518Ter) (rs886041889)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000339012 SCV000330681 pathogenic not provided 2016-07-21 criteria provided, single submitter clinical testing The Q2518X variant in the ANKRD11 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Q2518X variant was not observed in approximately 6400 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 Q2518X as a pathogenic variant.

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