ClinVar Miner

Submissions for variant NM_145725.3(TRAF3):c.488G>A (p.Arg163Gln)

dbSNP: rs774090745
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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 RCV000691750 SCV000819540 uncertain significance Herpes simplex encephalitis, susceptibility to, 3 2021-10-18 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 163 of the TRAF3 protein (p.Arg163Gln). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and glutamine. 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 missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with TRAF3-related conditions. This variant is not present in population databases (ExAC no frequency).

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