ClinVar Miner

Submissions for variant NM_145725.3(TRAF3):c.1022G>A (p.Arg341Gln)

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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 RCV002630082 SCV002949265 uncertain significance Herpes simplex encephalitis, susceptibility to, 3 2022-06-04 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with TRAF3-related conditions. This variant is present in population databases (rs760539192, gnomAD 0.003%). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 341 of the TRAF3 protein (p.Arg341Gln). 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0").

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