ClinVar Miner

Submissions for variant NM_138554.5(TLR4):c.896A>G (p.Asp299Gly)

gnomAD frequency: 0.06665  dbSNP: rs4986790
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Breakthrough Genomics, Breakthrough Genomics RCV004717902 SCV005319023 benign not provided criteria provided, single submitter not provided
HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas RCV003390649 SCV004101792 likely risk allele COPD, severe early onset 2023-09-01 no assertion criteria provided research Allele associated with the development of COPD secondary to tobacco smoke
HLA Laboratory, Instituto Nacional de Enfermedades Respiratorias Ismael Cosio Villegas RCV003231092 SCV003930275 uncertain significance Susceptibility to severe coronavirus disease (COVID-19) no assertion criteria provided research
OsteoImmunology Lab, Universidade de Sao Paulo RCV001729340 SCV001571195 protective Pericementitis 2018-12-03 no assertion criteria provided case-control In an exploratory population (N=570, 186 cases/ 384 controls), rs4986790 demonstrated a significant protective effect for the phenotype of chronic periodontitis [OR 0.3315, CI 0.14-0.75, p-value 0.005] . The association analysis combining the exploratory and three independent validation populations (N=1410; 528 cases and 882 controls) demonstrated a significant protective effect of the polymorphic allele for the phenotype ‘susceptibility for inflammatory alveolar bone resorption’ [OR 0.57, CI 0.38-0.85, p-value 0.005].
OMIM RCV000007040 SCV000027236 benign TLR4 POLYMORPHISM 2007-09-01 no assertion criteria provided literature only

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