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). This variant is present in population databases (rs753482575, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with TLR3-related conditions. ClinVar contains an entry for this variant (Variation ID: 1177575). 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"). 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.
OMIM RCV001533542 SCV001750201 risk factor Immunodeficiency 83, susceptibility to viral infections 2021-07-12 no assertion criteria provided literature only

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