ClinVar Miner

Submissions for variant NM_003265.3(TLR3):c.1462C>T (p.Arg488Ter)

gnomAD frequency: 0.00001  dbSNP: rs772992927
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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 RCV001962810 SCV002213838 uncertain significance Herpes simplex encephalitis, susceptibility to, 1 2023-05-31 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 1437338). This variant is present in population databases (rs772992927, gnomAD 0.006%). This sequence change creates a premature translational stop signal (p.Arg488*) in the TLR3 gene. It is expected to result in an absent or disrupted protein product. However, the current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in TLR3 cause disease.

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