ClinVar Miner

Submissions for variant NM_003265.3(TLR3):c.585del (p.Asn196fs)

dbSNP: rs1219003162
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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 RCV000817148 SCV000957694 uncertain significance Herpes simplex encephalitis, susceptibility to, 1 2018-08-01 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with TLR3-related disease. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in TLR3 cause disease. 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. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Asn196Ilefs*4) in the TLR3 gene. It is expected to result in an absent or disrupted protein product.

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