ClinVar Miner

Submissions for variant NM_003265.3(TLR3):c.2348C>T (p.Ser783Phe)

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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 RCV003603453 SCV004394577 uncertain significance Herpes simplex encephalitis, susceptibility to, 1 2023-08-25 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. This variant has not been reported in the literature in individuals affected with TLR3-related conditions. This variant is present in population databases (rs775443943, gnomAD 0.0009%). This sequence change replaces serine, which is neutral and polar, with phenylalanine, which is neutral and non-polar, at codon 783 of the TLR3 protein (p.Ser783Phe).

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