ClinVar Miner

Submissions for variant NM_003265.3(TLR3):c.1774G>A (p.Asp592Asn)

gnomAD frequency: 0.00001  dbSNP: rs184426724
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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 RCV000794530 SCV000933944 uncertain significance Herpes simplex encephalitis, susceptibility to, 1 2023-06-15 criteria provided, single submitter clinical testing This variant is present in population databases (rs184426724, gnomAD 0.02%). This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 592 of the TLR3 protein (p.Asp592Asn). This missense change has been observed in individual(s) with herpes simplex encephalitis (PMID: 25339207). 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. Experimental studies have shown that this missense change does not substantially affect TLR3 function (PMID: 25339207). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The asparagine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 641316).

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