ClinVar Miner

Submissions for variant NM_001367624.1(ZNF469):c.5414C>A (p.Pro1805His) (rs78446958)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000489102 SCV000576732 uncertain significance not provided 2018-03-09 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the ZNF469 gene. The P1777H variant has not been published as pathogenic or been reported as benign to our knowledge. The P1777H variant is observed at a frequency of 1.6% (257/16,134 alleles) in individuals of African ancestry suggesting this variant is benign (Lek et al., 2016). However, the P1777H 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. Additionally, in-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect.

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