ClinVar Miner

Submissions for variant NM_004895.4(NLRP3):c.1820A>T (p.Glu607Val) (rs745564372)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000692003 SCV000819808 uncertain significance Cryopyrin associated periodic syndrome 2019-10-12 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with valine at codon 607 of the NLRP3 protein (p.Glu607Val). The glutamic acid residue is moderately conserved and there is a moderate physicochemical difference between glutamic acid and valine. This variant is present in population databases (rs745564372, ExAC 0.009%). This variant has been observed in an individual with clinical features of cryopyrin associated periodic syndrome (CAPS), who inherited the variant from an unaffected parent (PMID: 29239927). ClinVar contains an entry for this variant (Variation ID: 570991). 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: "Benign"; Align-GVGD: "Class C0"). 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.
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000768277 SCV000898855 uncertain significance Chronic infantile neurological, cutaneous and articular syndrome; Familial amyloid nephropathy with urticaria AND deafness; Familial cold urticaria 2018-03-13 criteria provided, single submitter clinical testing NLRP3 NM_004895.4 exon 3 p.Glu607Val (c.1820A>T): This variant has not been reported in the literature but is present in 5/33582 Latino alleles in the Genome Aggregation Database ( Evolutionary conservation and computational predictive tools for this variant are unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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