ClinVar Miner

Submissions for variant NM_001367624.1(ZNF469):c.4771G>T (p.Ala1591Ser) (rs755066385)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000521263 SCV000621819 uncertain significance not specified 2017-10-26 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the ZNF469 gene. The A1563S variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). The A1563S 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 where serine (S) is the wild type allele in at least one other species. Finally, 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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