ClinVar Miner

Submissions for variant NM_001367624.1(ZNF469):c.9245C>T (p.Ala3082Val) (rs1015869921)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000437244 SCV000535583 uncertain significance not specified 2017-01-04 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the ZNF469 gene. The A3054V variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. Data from control individuals was not available to assess whether A3054V may be a common benign variant in the general population. However, the A3054V 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 where Valine is the wild type in several species. Finally, in silico analysis suggests that 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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