ClinVar Miner

Submissions for variant NM_001367624.1(ZNF469):c.6461C>T (p.Pro2154Leu) (rs950986305)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000477978 SCV000574074 uncertain significance not specified 2017-03-17 criteria provided, single submitter clinical testing The P2126L variant has not been published as pathogenic or been reported as benign to our knowledge. The P2126L variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). At the protein level, the P2126L variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. However, this substitution occurs at a position not conserved across species, and where leucine is wild-type in at least one non-mammalian species. Additionally, in silico analysis predicts this variant likely does not alter the protein structure/function. At the mRNA level, some splicing algorithms, though not all, predict an increased affinity for a cryptic splice acceptor site downstream of the natural site in intron 1. Nevertheless, in the absence of mRNA functional studies, the physiological consequence of this variant cannot be precisely determined.

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