ClinVar Miner

Submissions for variant NM_001009944.3(PKD1):c.8414A>G (p.His2805Arg) (rs202086892)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000483119 SCV000573131 uncertain significance not provided 2017-02-27 criteria provided, single submitter clinical testing The H2805R variant in the PKD1 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The H2805R variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The H2805R 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. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret H2805R as a variant of uncertain significance.

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