ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.1197_1200AAAG[1] (p.Lys401fs) (rs886042029)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000400051 SCV000330865 pathogenic not provided 2016-09-29 criteria provided, single submitter clinical testing The c.1201_1204delAAAG 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.1201_1204delAAAG variant causes a frameshift starting with codon Lysine 401, changes this amino acid to an Arginine residue, and creates a premature Stop codon at position 25 of the new reading frame, denoted p.Lys401ArgfsX25. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.1201_1204delAAAG 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.1201_1204delAAAG as a pathogenic variant.

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