ClinVar Miner

Submissions for variant NM_001367624.1(ZNF469):c.10332dup (p.Arg3445fs) (rs764470052)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000627579 SCV000748579 likely pathogenic not provided 2018-04-16 criteria provided, single submitter clinical testing The c.10248dupG variant in the ZNF469 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The c.10248dupG variant causes a frameshift starting with codon Arginine 3417, changes this amino acid to a Alanine residue, and creates a premature Stop codon at position 58 of the new reading frame, denoted p.Arg3417AlafsX58. This variant is predicted to cause loss of normal protein function through protein truncation. The c.10248dupG variant is observed in 9/63,380 (0.014%) alleles from individuals of non-Finnish European background in large population cohorts (Lek et al., 2016). A different frameshift variant at this residue (c.10248dupG; p.R3417AfsX56) has been reported at GeneDx in association with features suggestive of brittle cornea syndrome-1. We interpret c.10248dupG as a likely pathogenic variant.

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