ClinVar Miner

Submissions for variant NM_003265.3(TLR3):c.597A>T (p.Leu199Phe)

gnomAD frequency: 0.00003  dbSNP: rs753482575
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV001815586 SCV002062568 uncertain significance not provided 2021-11-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002568915 SCV003499261 uncertain significance Herpes simplex encephalitis, susceptibility to, 1 2022-06-24 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 199 of the TLR3 protein (p.Leu199Phe). 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"). ClinVar contains an entry for this variant (Variation ID: 1177575). This variant has not been reported in the literature in individuals affected with TLR3-related conditions. This variant is present in population databases (rs753482575, gnomAD 0.01%).
OMIM RCV001533542 SCV001750201 risk factor Immunodeficiency 83, susceptibility to viral infections 2021-07-12 no assertion criteria provided literature only

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