ClinVar Miner

Submissions for variant NM_001243133.2(NLRP3):c.1382G>A (p.Cys461Tyr)

dbSNP: rs764806756
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001989606 SCV002284809 uncertain significance Cryopyrin associated periodic syndrome 2021-05-30 criteria provided, single submitter clinical testing 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. 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 not been reported in the literature in individuals with NLRP3-related conditions. This variant is present in population databases (rs764806756, ExAC 0.002%). This sequence change replaces cysteine with tyrosine at codon 463 of the NLRP3 protein (p.Cys463Tyr). The cysteine residue is weakly conserved and there is a large physicochemical difference between cysteine and tyrosine.

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