ClinVar Miner

Submissions for variant NM_003265.3(TLR3):c.2682A>G (p.Gln894=)

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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 RCV003498923 SCV004259724 uncertain significance Herpes simplex encephalitis, susceptibility to, 1 2024-01-08 criteria provided, single submitter clinical testing This sequence change affects codon 894 of the TLR3 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the TLR3 protein. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with TLR3-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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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