ClinVar Miner

Submissions for variant NM_145725.3(TRAF3):c.969dup (p.Asp324fs)

dbSNP: rs1890396534
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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 RCV001352007 SCV001546524 uncertain significance Herpes simplex encephalitis, susceptibility to, 3 2020-07-16 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with TRAF3-related conditions. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in TRAF3 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 sequence change creates a premature translational stop signal (p.Asp324Argfs*11) in the TRAF3 gene. It is expected to result in an absent or disrupted protein product.

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