ClinVar Miner

Submissions for variant NM_001367624.1(ZNF469):c.10330G>C (p.Gly3444Arg) (rs569602115)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics,Fulgent Genetics RCV000320795 SCV000896571 uncertain significance Corneal fragility keratoglobus, blue sclerae AND joint hypermobility 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000488947 SCV000577506 uncertain significance not specified 2017-03-27 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the ZNF469 gene. The G3416R variant has not been published as pathogenic or been reported as benign to our knowledge. The G3416R 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. Nevertheless, this substitution occurs at a position that is not conserved across species and in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Additionally, G3416R has been observed in 2/166 (1.2%) alleles from individuals of Latino ancestry and in 2/596 (0.3%) alleles from individuals of African ancestry in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015).
Illumina Clinical Services Laboratory,Illumina RCV000320795 SCV000399443 uncertain significance Corneal fragility keratoglobus, blue sclerae AND joint hypermobility 2016-06-14 criteria provided, single submitter clinical testing

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