ClinVar Miner

Submissions for variant NM_004895.4(NLRP3):c.2305G>A (p.Gly769Ser) (rs866534904)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000220879 SCV000278957 uncertain significance not provided 2012-05-03 criteria provided, single submitter clinical testing To our knowledge, the G769S missense substitution in the NLRP3 gene has neither been published as a mutation, nor as a benign polymorphism. This variant represents a non-conservative amino acid substitution as a non-polar Glycine residue is replaced by a polar Serine residue. This substitution occurs in the Leucine-rich repeat domain region of the NLRP3 gene; however, the position where this substitution occurs is not highly conserved among species. In addition, the vast majority of mutations in the NLRP3 gene are located in exon 3 of the gene and affect the NACHT/NBD domain of the protein. Therefore, it is not clear if G769S represents a disease-causing mutation or a rare, benign polymorphism.

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