ClinVar Miner

Submissions for variant NM_001243133.2(NLRP3):c.515T>C (p.Ile172Thr)

dbSNP: rs180177449
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001857409 SCV002260484 likely pathogenic Cryopyrin associated periodic syndrome 2021-05-27 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has been observed in individual(s) with cryopyrin-associated periodic syndrome (PMID: 15231984, Invitae). In at least one individual the variant was observed to be de novo. The variant is also known as p.I172T. ClinVar contains an entry for this variant (Variation ID: 97964). This sequence change replaces isoleucine with threonine at codon 174 of the NLRP3 protein (p.Ile174Thr). The isoleucine residue is weakly conserved and there is a moderate physicochemical difference between isoleucine and threonine.
Unité médicale des maladies autoinflammatoires, CHRU Montpellier RCV000084225 SCV000116359 not provided Familial cold autoinflammatory syndrome 1 no assertion provided not provided

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