ClinVar Miner

Submissions for variant NM_004895.4(NLRP3):c.644A>G (p.His215Arg) (rs150396172)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000520553 SCV000616922 uncertain significance not provided 2017-08-28 criteria provided, single submitter clinical testing The H215R variant in the NLRP3 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The H215R 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 H215R variant is a conservative amino acid substitution, which occurs at a position that is not conserved. In silico analysis predicts this variant likely does not alter the protein structure/function. We interpret H215R as a variant of uncertain significance

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