ClinVar Miner

Submissions for variant NM_001127464.2(ZNF469):c.7554del (p.Ser2519Alafs) (rs886039575)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000255934 SCV000322451 likely pathogenic not provided 2017-10-13 criteria provided, single submitter clinical testing The c.7554delC variant in the ZNF469 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.7554delC variant causes a frameshift starting with codon serine 2519, changes this amino acid to an alanine residue, and creates a premature stop codon at position 37 of the new reading frame, denoted p.Ser2519AlafsX37. This variant is predicted to cause loss of normal protein function through protein truncation. The c.7554delC variant is not observed in large population cohorts (Lek et al., 2016).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000255934 SCV000701818 pathogenic not provided 2016-10-12 criteria provided, single submitter clinical testing

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