ClinVar Miner

Submissions for variant NM_003265.3(TLR3):c.2672A>G (p.His891Arg)

dbSNP: rs758310298
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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 RCV001930096 SCV002137136 uncertain significance Herpes simplex encephalitis, susceptibility to, 1 2022-10-17 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. Experimental studies are conflicting or provide insufficient evidence to determine the effect of this variant on TLR3 function (PMID: 27872624). 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. ClinVar contains an entry for this variant (Variation ID: 1366330). This missense change has been observed in individual(s) with primary immunodeficiency (PMID: 27872624). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 891 of the TLR3 protein (p.His891Arg).

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