ClinVar Miner

Submissions for variant NM_001367624.1(ZNF469):c.8344C>T (p.His2782Tyr) (rs553227769)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000282615 SCV000399411 uncertain significance Brittle cornea syndrome 1 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000485021 SCV000573346 uncertain significance not specified 2017-02-14 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the ZNF469 gene. The H2754Y variant has not been published as pathogenic or been reported as benign to our knowledge. H2754Y is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. However, this substitution occurs at a position that is not conserved across species, and in silico analysis predicts this variant likely does not alter the protein structure/function. Furthermore, the Exome Aggregation Consortium (ExAC) reports H2754Y was observed in 7/8194 alleles from individuals of European (Non-Finnish) background (Lek et al., 2016).
CeGaT Praxis fuer Humangenetik Tuebingen RCV000658754 SCV000780544 uncertain significance not provided 2018-03-01 criteria provided, single submitter clinical testing

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