ClinVar Miner

Submissions for variant NM_003265.3(TLR3):c.952_953del (p.Leu318fs)

dbSNP: rs2099303728
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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 RCV001294312 SCV001483184 uncertain significance Herpes simplex encephalitis, susceptibility to, 1 2020-05-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu318Alafs*17) in the TLR3 gene. It is expected to result in an absent or disrupted protein product. 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. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in TLR3 cause disease. This variant has not been reported in the literature in individuals with TLR3-related conditions. This variant is not present in population databases (ExAC no frequency).

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