ClinVar Miner

Submissions for variant NM_001367624.1(ZNF469):c.2297G>A (p.Arg766Gln) (rs144492145)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000725898 SCV000340337 uncertain significance not provided 2016-04-04 criteria provided, single submitter clinical testing
GeneDx RCV000325707 SCV000491427 uncertain significance not specified 2016-12-12 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the ZNF469 gene. The R766Q variant has been reported inone European patient with keratoconus and classified as a polymorphism (Lechner et al., 2014). The R766Q variant was not observed in approximately 2,200 individuals of European andAfrican American ancestry in the NHLBI Exome Sequencing Project (average read depth: 5.0), and was not observedwith any significant frequency in the Exome Aggregation Consortium (ExAC). The R766Q variant is asemi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ insome properties. However, this substitution occurs at a position that is not conserved across species, and in silicoanalysis predicts this variant likely does not alter the protein structure/function.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000725898 SCV001151042 likely benign not provided 2019-02-01 criteria provided, single submitter clinical testing

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