ClinVar Miner

Submissions for variant NM_001367624.1(ZNF469):c.2653C>G (p.Leu885Val) (rs139653501)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000486624 SCV000574194 uncertain significance not specified 2017-03-17 criteria provided, single submitter clinical testing The L885V variant of uncertain significance in the ZNF469 gene has not been published as pathogenic or been reported as benign to our knowledge. The L885V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. 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. Furthermore, the Exome Aggregation Consortium (ExAC) reports L885V was observed in 6/416 alleles from individuals of East Asian ancestry, 6/4,656 alleles from individuals of European (Non-Finnish) ancestry, and 6/7,682 alleles from individuals of South Asian ancestry (Lek et al., 2016).

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