ClinVar Miner

Submissions for variant NM_001367624.1(ZNF469):c.139G>A (p.Gly47Ser) (rs138954293)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000497526 SCV000589895 uncertain significance not specified 2017-05-31 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the ZNF469 gene. The G47S variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is observed in 1% alleles from individuals of African ancestry in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This substitution occurs at a position that is not conserved across species. In silico analysis suggests that this variant likely does not alter the protein structure/function. Nevertheless, the G47S 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.
Illumina Clinical Services Laboratory,Illumina RCV000311608 SCV000399251 uncertain significance Corneal fragility keratoglobus, blue sclerae AND joint hypermobility 2016-06-14 criteria provided, single submitter clinical testing

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