ClinVar Miner

Submissions for variant NM_004895.4(NLRP3):c.766C>A (p.Leu256Met) (rs1553286385)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000520095 SCV000621927 uncertain significance not provided 2017-10-24 criteria provided, single submitter clinical testing The L256M variant in the NLRP3 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. This variant is not observed in large population cohorts (Lek et al., 2016). The L256M 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 conserved in mammals. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret L256M as a variant of uncertain significance.

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