ClinVar Miner

Submissions for variant NM_004895.4(NLRP3):c.2126C>A (p.Pro709Gln)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fulgent Genetics,Fulgent Genetics RCV000763848 SCV000894778 uncertain significance Chronic infantile neurological, cutaneous and articular syndrome; Keratitis fugax hereditaria; Familial amyloid nephropathy with urticaria AND deafness; Familial cold urticaria; DEAFNESS, AUTOSOMAL DOMINANT 34, WITH OR WITHOUT INFLAMMATION 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV000707651 SCV000836756 uncertain significance Cryopyrin associated periodic syndrome 2018-12-18 criteria provided, single submitter clinical testing This sequence change replaces proline with glutamine at codon 709 of the NLRP3 protein (p.Pro709Gln). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and glutamine. This variant is present in population databases (rs200378519, ExAC 0.01%). This variant has not been reported in the literature in individuals with NLRP3-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The glutamine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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