ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.3704_3707del (p.Lys1235fs) (rs1555528354)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000627445 SCV000748445 pathogenic not provided 2018-03-13 criteria provided, single submitter clinical testing The c.3704_3707delAACA variant in the ANKRD11 gene has been reported previously in association with KBG syndrome (Low et al., 2016). The c.3704_3707delAACA variant causes a frameshift starting with codon Lysine 1235, changes this amino acid to an Arginine residue, and creates a premature Stop codon at position 82 of the new reading frame, denoted p.Lys1235ArgfsX82. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.3704_3707delAACA variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.3704_3707delAACA as a pathogenic variant.

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