ClinVar Miner

Submissions for variant NM_004895.4(NLRP3):c.1719G>T (p.Leu573Phe) (rs180177489)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001228474 SCV001400874 uncertain significance Cryopyrin associated periodic syndrome 2019-08-28 criteria provided, single submitter clinical testing This sequence change replaces leucine with phenylalanine at codon 573 of the NLRP3 protein (p.Leu573Phe). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and phenylalanine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with cryopyrin associated periodic syndrome (PMID: 25979514). This variant is also known as L571F in the literature. ClinVar contains an entry for this variant (Variation ID: 97948). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). 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.
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000084208 SCV000116341 not provided Familial cold urticaria no assertion provided not provided

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