ClinVar Miner

Submissions for variant NM_004895.4(NLRP3):c.230C>A (p.Ala77Glu) (rs200288250)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000216985 SCV000278953 uncertain significance not provided 2013-04-28 criteria provided, single submitter clinical testing The A77E missense substitution in the NLRP3 gene has neither been published as a mutation, nor reported as a benign polymorphism. A77E represents a nonconservative amino acid substitution as a small, non-polar Alanine residue is replaced with a large, negatively-charged Glutamic Acid residue. This substitution occurs at a position in the NLRP3 protein that is conserved among species; however, it is not located in the NACHT/NBD domain, which is the domain where nearly all NLRP3 disease-associated mutations have been identified. Therefore, based on the currently available information, it is unclear whether A77E is a disease-causing mutation or a rare benign variant.

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