ClinVar Miner

Submissions for variant NM_001243133.2(NLRP3):c.578C>T (p.Thr193Met)

dbSNP: rs76291085
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000761714 SCV000278955 uncertain significance not provided 2024-05-30 criteria provided, single submitter clinical testing Identified in patients with inflammatory disorders in published literature (PMID: 24135410, 35482138); In silico analysis indicates that this missense variant does not alter protein structure/function; Also known as T193M; This variant is associated with the following publications: (PMID: 33329557, 26444566, 32082075, 28421071, 33954847, 24135410, 35482138)
CeGaT Center for Human Genetics Tuebingen RCV000761714 SCV000891897 uncertain significance not provided 2018-07-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001070393 SCV001235620 likely benign Cryopyrin associated periodic syndrome 2023-11-13 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000761714 SCV003800375 uncertain significance not provided 2022-04-01 criteria provided, single submitter clinical testing The NLRP3 c.584C>T; p.Thr195Met variant (rs76291085) is reported in the literature in an individual affected with Behcet's syndrome (Yuksel 2013). This variant is found in the general population with an overall allele frequency of 0.003 % (11/ 282,512 alleles) in the Genome Aggregation Database. The threonine at codon 195 is weakly conserved, and computational analyses are uncertain whether this variant is neutral or deleterious (REVEL: 0.244). Due to limited information, the clinical significance of the p.Thr195Met variant is uncertain at this time. References: Yuksel et al. Novel NLRP3/cryopyrin mutations and pro-inflammatory cytokine profiles in Behçet's syndrome patients. Int Immunol. 2014 Feb;26(2):71-81. doi: 10.1093/intimm/dxt046. Epub 2013 Oct 17. PMID: 24135410.

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