ClinVar Miner

Submissions for variant NM_001367624.1(ZNF469):c.6664dup (p.Leu2222fs) (rs1361564558)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000478955 SCV000572637 likely pathogenic not provided 2017-01-16 criteria provided, single submitter clinical testing Although the c.6580dupC pathogenic variant in the ZNF469 gene has not been reported to our knowledge, this variant causes a shift in reading frame starting at codon leucine (Leu) 2194, changing it to a proline (Pro), and creating a premature stop codon at position 75 of the new reading frame, denoted pLeu219ProfsX75. This likely pathogenic variant is expected to result in an abnormal, truncated protein product as the last 1732 amino acid residues of the protein are replaced with 74 incorrect amino acid residues. Other frameshift variants in the ZNF469 gene have been reported in the Human Gene Mutation Database in association with BCS1 (Stenson et al., 2014). Furthermore, the c.6580dupC variant was not observed in approximately 2,300 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations.

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