ClinVar Miner

Submissions for variant NM_003265.3(TLR3):c.1301A>G (p.Glu434Gly)

gnomAD frequency: 0.00001  dbSNP: rs377028149
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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 RCV001896459 SCV002165022 uncertain significance Herpes simplex encephalitis, susceptibility to, 1 2021-08-02 criteria provided, single submitter clinical testing 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. 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. This variant is present in population databases (rs377028149, ExAC 0.002%). This sequence change replaces glutamic acid with glycine at codon 434 of the TLR3 protein (p.Glu434Gly). The glutamic acid residue is weakly conserved and there is a moderate physicochemical difference between glutamic acid and glycine.

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