ClinVar Miner

Submissions for variant NM_001127464.2(ZNF469):c.3034delG (p.Val1012Serfs) (rs1555519050)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000519778 SCV000621944 likely pathogenic not provided 2017-10-31 criteria provided, single submitter clinical testing Although the c.3034delG likely pathogenic variant in the ZNF469 gene has not been reported to our knowledge, this variant causes a shift in reading frame starting at codon valine 1012, changing it to a serine, and creating a premature stop codon at position 41 of the new reading frame, denoted p.Val1012SerfsX41. This likely pathogenic variant is expected to result in an abnormal, truncated protein product with the last 2914 amino acids replaced with 40 incorrect amino acids. Other frameshift variants in the ZNF469 gene have been reported in Human Gene Mutation Database in association with BCS (Stenson et al., 2014), indicating that loss of function is a mechanism of disease for this gene. Furthermore, the c.3034delG variant has not been observed in large population cohorts (Lek et al., 2016).

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