ClinVar Miner

Submissions for variant NM_001367624.1(ZNF469):c.10984C>T (p.Arg3662Ter) (rs1171824548)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000578555 SCV000680919 uncertain significance not specified 2016-12-21 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the ZNF469 gene. The R3634X variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. This 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. R3634X is predicted to cause loss of normal protein function by protein truncation, resulting in the loss of the last 292 amino acids. However, although other nonsense variants in the ZNF469 gene have been reported in the Human Gene Mutation Database in association with Brittle cornea syndrome (Stenson et al., 2014), none occur downstream of this variant.Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or benign.

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