ClinVar Miner

Submissions for variant NM_004895.4(NLRP3):c.926G>T (p.Gly309Val) (rs180177468)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001043402 SCV001207146 likely pathogenic Cryopyrin associated periodic syndrome 2019-05-04 criteria provided, single submitter clinical testing This sequence change replaces glycine with valine at codon 309 of the NLRP3 protein (p.Gly309Val). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and valine. This variant is not present in population databases (ExAC no frequency). This variant has been observed as a germline variant and as a somatic mosaic variant in several individuals affected with severe chronic infantile neurologic, cutaneous, articular (CINCA) syndrome (PMID: 16802372, 21702021). This variant is also known as CIAS1 p.G307V in the literature. ClinVar contains an entry for this variant (Variation ID: 97985). This variant has been reported to affect NLRP3 protein function (PMID: 27692610). This variant disrupts the 309 amino acid residue in NLRP3. Other variant(s) that disrupt this residue have been observed in individuals with NLRP3-related conditions (PMID: 18063752, 21702021, 27191192), which suggests that this may be a clinically significant amino acid residue. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000084247 SCV000116383 not provided Familial cold urticaria no assertion provided not provided

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