ClinVar Miner

Submissions for variant NM_001127464.1:c.2966_3012del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001008611 SCV001168384 likely pathogenic not provided 2019-03-01 criteria provided, single submitter clinical testing The c.2966_3012del47 variant in the ZNF469 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.2966_3012del47 variant causes a frameshift starting with codon Arginine 989, changes this amino acid to a Proline residue, and creates a premature Stop codon at position 102 of the new reading frame, denoted p.Arg989ProfsX102. This variant is predicted to cause loss of normal protein function through protein truncation, as the last 2937 amino acids are lost and replaced with 101 incorrect amino acids. The c.2966_3012del47 variant is not observed in large population cohorts (Lek et al., 2016). We interpret c.2966_3012del47 as a likely pathogenic variant.

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