ClinVar Miner

Submissions for variant NM_003265.3(TLR3):c.157A>G (p.Ile53Val)

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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 RCV002712149 SCV003010968 uncertain significance Herpes simplex encephalitis, susceptibility to, 1 2022-07-17 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.006%). This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 53 of the TLR3 protein (p.Ile53Val). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0").

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