ClinVar Miner

Submissions for variant NM_003265.3(TLR3):c.1385A>T (p.Tyr462Phe)

dbSNP: rs1312965236
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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 RCV001224743 SCV001396962 uncertain significance Herpes simplex encephalitis, susceptibility to, 1 2019-04-05 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with TLR3-related conditions. This sequence change replaces tyrosine with phenylalanine at codon 462 of the TLR3 protein (p.Tyr462Phe). The tyrosine residue is highly conserved and there is a small physicochemical difference between tyrosine and phenylalanine. This variant is not present in population databases (ExAC no frequency). 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: "Probably Damaging"; Align-GVGD: "Class C0"). 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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