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: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000007040 SCV000027236 benign TLR4 POLYMORPHISM 2007-09-01 no assertion criteria provided literature only
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].
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
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

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