ClinVar Miner

Submissions for variant NM_004895.4(NLRP3):c.920T>C (p.Leu307Pro) (rs180177431)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000221611 SCV000278940 likely pathogenic not provided 2016-08-11 criteria provided, single submitter clinical testing The L307P missense variant in the NLRP3 gene has been reported previously in association with Familial Cold Urticaria (Aganna et al., 2002). L307P was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The variant is a semi-conservative amino acid substitution and occurs at a position within the NACHT domain that is conserved in mammals. Missense variants in nearby residues (D305H/N/G, E306K, Q308K) have been reported in the Human Gene Mutation Database in association with familial cold autoinflammatory syndrome/CINCA/Muckle-Wells syndrome (Stenson et al., 2014), supporting the functional importance of this region of the protein. Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded.
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000084244 SCV000116380 not provided Familial cold urticaria no assertion provided not provided

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