ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.488_501del (p.Lys163fs) (rs1555531390)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000598748 SCV000710299 pathogenic not provided 2018-01-05 criteria provided, single submitter clinical testing The c.488_501del14 variant in the ANKRD11 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.488_501del14 variant causes a frameshift starting with codon Lysine 163, changes this amino acid to an Arginine residue, and creates a premature Stop codon at position 43 of the new reading frame, denoted p.Lys163ArgfsX43. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.488_501del14 variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.488_501del14 as a pathogenic variant.

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