ClinVar Miner

Submissions for variant NM_004895.4(NLRP3):c.2969G>C (p.Cys990Ser) (rs876660974)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000214473 SCV000278964 uncertain significance not provided 2013-07-12 criteria provided, single submitter clinical testing To our knowledge, the C990S missense substitution in the NLRP3 gene has neither been published as a mutation, nor reported as a benign polymorphism. Although Cysteine and Serine are both neutral amino acids, C990S represents a non-conservative amino acid substitution as the loss of a Cysteine residue could affect disulfide bond formation. The position in the NLRP3 protein where this substitution occurs is conserved among species; although very few mutations have been reported outside of exon 3 of the NLRP3 gene. However, in silico models predict this change is possibly damaging. Therefore, based on the currently available information, it is unclear whether C990S is a disease-causing mutation or a rare benign variant.

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