ClinVar Miner

Submissions for variant NM_003265.3(TLR3):c.1879AAG[1] (p.Lys628del)

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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 RCV003077665 SCV003462231 uncertain significance Herpes simplex encephalitis, susceptibility to, 1 2023-12-01 criteria provided, single submitter clinical testing This variant, c.1882_1884del, results in the deletion of 1 amino acid(s) of the TLR3 protein (p.Lys628del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs764748873, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with TLR3-related conditions. 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.

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