ClinVar Miner

Submissions for variant NM_001367624.1(ZNF469):c.3950A>G (p.Lys1317Arg) (rs772817384)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Praxis fuer Humangenetik Tuebingen RCV000585365 SCV000692876 likely benign not provided 2017-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000433085 SCV000534206 uncertain significance not specified 2017-08-24 criteria provided, single submitter clinical testing The K1289R variant in the ZNF469 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. This variant was not observed in approximately 2300 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The K1289R 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. In silico analysis predicts this variant likely does not alter the protein structure/function. We interpret K1289R as a variant of uncertain significance.
Illumina Clinical Services Laboratory,Illumina RCV000406466 SCV000399333 uncertain significance Corneal fragility keratoglobus, blue sclerae AND joint hypermobility 2016-06-14 criteria provided, single submitter clinical testing

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