ClinVar Miner

Submissions for variant NM_145725.3(TRAF3):c.638_639del (p.Leu213fs)

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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 RCV003648405 SCV004434561 uncertain significance Herpes simplex encephalitis, susceptibility to, 3 2023-02-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu213Profs*20) 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. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with TRAF3-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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.

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