ClinVar Miner

Submissions for variant NM_003265.2(TLR3):c.889C>G (p.Leu297Val) (rs35311343)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000647014 SCV000768800 uncertain significance Herpes simplex encephalitis 1 2018-05-07 criteria provided, single submitter clinical testing This sequence change replaces leucine with valine at codon 297 of the TLR3 protein (p.Leu297Val). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and valine. This variant is present in population databases (rs35311343, ExAC 0.2%). This variant has been reported in several individuals affected with herpes simplex encephalitis (PMID: 26513235, 28368532). Studies on peripheral blood from an individual carrying this variant showed no defective responses to polyinosinic-polycytidylic acid (poly(I:C)) or HSV-1 stimulation (PMID: 26513235). 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 RCV000587900 SCV000693876 risk factor Herpes simplex encephalitis 2 2018-08-08 no assertion criteria provided literature only

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