ClinVar Miner

Submissions for variant NM_145725.3(TRAF3):c.487C>T (p.Arg163Ter)

dbSNP: rs1566789877
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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 RCV000691548 SCV000819333 uncertain significance Herpes simplex encephalitis, susceptibility to, 3 2022-02-02 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 570644). This variant has not been reported in the literature in individuals affected with TRAF3-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg163*) in the TRAF3 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 TRAF3 cause disease.

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