ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.2589dup (p.Asp864fs) (rs886041724)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000373080 SCV000330461 pathogenic not provided 2017-09-21 criteria provided, single submitter clinical testing The c.2589dupA 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.2589dupA variant causes a frameshift starting with codon Aspartic acid 864, changes this amino acid to Arginine residue, and creates a premature Stop codon at position 52 of the new reading frame, denoted p.Asp864ArgfsX52. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.2589dupA 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. We interpret c.2589dupA as a pathogenic variant.

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