ClinVar Miner

Submissions for variant NM_001367624.1(ZNF469):c.1856G>T (p.Ser619Ile) (rs1187845779)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics,Fulgent Genetics RCV000764085 SCV000895049 uncertain significance Corneal fragility keratoglobus, blue sclerae AND joint hypermobility 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000522518 SCV000622003 uncertain significance not specified 2017-11-06 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the ZNF469 gene. The S619I variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). The S619I 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. However, this substitution occurs at a position that is only conserved in mammals. Finally, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function.

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