ClinVar Miner

Submissions for variant NM_004895.4(NLRP3):c.1219A>C (p.Thr407Pro) (rs180177445)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000221845 SCV000278943 likely pathogenic not provided 2018-08-28 criteria provided, single submitter clinical testing The T407P variant, referred to as T405P using alternate nomenclature, has been published previously in association with CINCA syndrome and CAPS (Neven et al., 2004; Lainka et al., 2010; Jesus et al., 2012). The variant is not observed in large population cohorts (Lek et al., 2016). T407P is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. The variant is located within the NACHT domain, which is a major locus of CAPS-associated pathogenic variants (Masters et al., 2009). We consider this variant to be likely pathogenic.
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000084175 SCV000116307 not provided Familial cold urticaria no assertion provided not provided

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