ClinVar Miner

Submissions for variant NM_003265.3(TLR3):c.488A>C (p.Lys163Thr)

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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 RCV003499039 SCV004264772 uncertain significance Herpes simplex encephalitis, susceptibility to, 1 2023-01-23 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with TLR3-related conditions. This variant is present in population databases (rs145104245, gnomAD 0.005%). This sequence change replaces lysine, which is basic and polar, with threonine, which is neutral and polar, at codon 163 of the TLR3 protein (p.Lys163Thr).

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