ClinVar Miner

Submissions for variant NM_001367624.1(ZNF469):c.5675G>A (p.Arg1892Lys) (rs528085780)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000512931 SCV000608784 uncertain significance not provided 2017-04-01 criteria provided, single submitter clinical testing
GeneDx RCV000520165 SCV000620413 uncertain significance not specified 2017-08-29 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the ZNF469 gene. The R1864K variant has been reported in one patient with keratoconus; however, the pathogenicity was not definitively determined (Karolak et al., 2016). This variant is observed in 9/7606 (0.1%) alleles from individuals of Finnish ancestry and in 9/7912 (0.1%) alleles from individuals of South Asian ancestry in the Exome Aggregation Consortium (ExAC) dataset (Lek et al., 2016; Exome Variant Server). The R1864K variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is not conserved across species and where lysine (K) is present as the wild type in at least one species. Finally, in silico analysis predicts this variant likely does not alter the protein structure/function.

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