ClinVar Miner

Submissions for variant NM_001367624.1(ZNF469):c.5914G>A (p.Gly1972Arg) (rs766410344)

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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 RCV000764089 SCV000895053 uncertain significance Corneal fragility keratoglobus, blue sclerae AND joint hypermobility 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000413617 SCV000492437 uncertain significance not specified 2016-12-15 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the ZNF469 gene. The G1944R variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. This variant was not observed in approximately 2,300 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, but was observed in 17/7004 (0.24%) alleles from individuals of Non-Finnish European ancestry in the Exome Aggregation Consortium. The G1944R 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 not conserved across species and in silico analysis predicts this variant likely does not alter the protein structure/function.Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or rare benign.

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