ClinVar Miner

Submissions for variant NM_001127464.2(ZNF469):c.1673del (p.Ala558Valfs) (rs1064795080)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000480677 SCV000570534 likely pathogenic not provided 2016-05-31 criteria provided, single submitter clinical testing The c.1673delC variant in the ZNF469 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.1673delC variant causes a frameshift starting with codon Alanine 558, changes this amino acid to a Valine residue, and creates a premature Stop codon at position 26 of the new reading frame, denoted p.Ala558ValfsX26. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.1673delC variant was not observed in approximately 2,000 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.1673delC as a strong candidate for a pathogenic variant; however the possibility that it may be a rare benign variant cannot be excluded.

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