ClinVar Miner

Submissions for variant NM_001367624.1(ZNF469):c.11107G>A (p.Val3703Met) (rs151127652)

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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 RCV000584866 SCV000692880 uncertain significance not provided 2017-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000489966 SCV000576871 uncertain significance not specified 2017-04-17 criteria provided, single submitter clinical testing The V3675M variant of uncertain significance in the ZNF469 gene has not been published as pathogenic or been reported as benign to our knowledge. V3675M is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The V3675M variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. Moreover, this substitution occurs at a position that is not conserved, where M3675 is the wild-type residue in at least one species. In silico analysis predicts this variant likely does not alter the protein structure/function.
Illumina Clinical Services Laboratory,Illumina RCV000314671 SCV000399454 uncertain significance Corneal fragility keratoglobus, blue sclerae AND joint hypermobility 2016-06-14 criteria provided, single submitter clinical testing

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