ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.7062del (p.Ser2355fs) (rs886041942)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000274605 SCV000330751 pathogenic not provided 2016-08-29 criteria provided, single submitter clinical testing The c.7062delC pathogenic variant in the ANKRD11 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.7062delC variant causes a frameshift starting with codon Serine 2355, changes this amino acid to a Proline residue, and creates a premature Stop codon at position 46 of the new reading frame, denoted p.Ser2355ProfsX46. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Sufficient data from control individuals in the NHLBI Exome Sequencing Project and Exome Aggregation Consortium data sets were not available to assess whether the c.7062delC variant may be a common benign variant in the general population; however, this variant has not been detected previously in the internal database at GeneDx. We interpret c.7062delC as a pathogenic variant.

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