ClinVar Miner

Submissions for variant NM_001367624.1(ZNF469):c.80C>T (p.Pro27Leu) (rs1009769670)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000426492 SCV000536584 uncertain significance not specified 2017-02-03 criteria provided, single submitter clinical testing he P27L variant has not been publishedas pathogenic or been reported as benign to our knowledge. It is not observed in the NHLBI Exome SequencingProject dataset (Exome Variant Server). The P27L variant is a semi-conservative amino acid substitution, which mayimpact secondary protein structure as these residues differ in some properties. However, this substitution occurs at aposition that is not conserved across species, and in silico analysis predicts this variant likely does not alter theprotein structure/function.

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