ClinVar Miner

Submissions for variant NM_001367624.1(ZNF469):c.1483C>T (p.Pro495Ser) (rs202205643)

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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 RCV000728426 SCV000856002 uncertain significance not provided 2017-08-01 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000764084 SCV000895048 uncertain significance Corneal fragility keratoglobus, blue sclerae AND joint hypermobility 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000494353 SCV000582270 uncertain significance not specified 2016-12-21 criteria provided, single submitter clinical testing The P495S variant of uncertain significance in the ZNF469 gene has not been published as a pathogenic variant or been reported as a benign variant to our knowledge. The Exome Aggregation Consortium reports the P495S variant was observed in approximately 0.1% (6/3932) of alleles from individuals of European ancestry. Furthermore, this substitution occurs at a position that is not conserved and S495 is wild type in multiple species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Nevertheless, the P495S variant 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.

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