ClinVar Miner

Submissions for variant NM_013275.6(ANKRD11):c.4875del (p.Lys1625fs) (rs1555527511)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000519835 SCV000621346 pathogenic not provided 2017-10-04 criteria provided, single submitter clinical testing The c.4875delG variant in the ANKRD11 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.4875delG variant causes a frameshift starting with codon Lysine 1625, changes this amino acid to an Asparagine residue, and creates a premature Stop codon at position 61 of the new reading frame, denoted p.Lys1625AsnfsX61. This variant ispredicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.4875delG variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.4875delG as a pathogenic variant.

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