ClinVar Miner

Submissions for variant NM_004895.4(NLRP3):c.392A>G (p.Lys131Arg) (rs188623199)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000216089 SCV000278933 uncertain significance not provided 2013-02-19 criteria provided, single submitter clinical testing To our knowledge, the K131R missense substitution in the NLRP3 gene has neither been published as a mutation, nor reported as a benign polymorphism. K131R represents a conservative amino acid substitution as both Lysine and Arginine are positively-charged amino acids. The position in the NLRP3 protein where this substitution occurs is moderately conserved among species; although, very few mutations have been reported outside of exon 3 of the NLRP3 gene. However, a missense substitution in a neighboring codon (R137H aka R135H) has been reported in an individual with a diagnosis of Muckle-Wells syndrome (Lainka et al., 2010). Therefore, based on the currently available information, it is unclear whether K131R is a disease-causing mutation or a rare benign variant.

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