ClinVar Miner

Submissions for variant NM_145725.3(TRAF3):c.199G>A (p.Glu67Lys)

dbSNP: rs1566786155
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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 RCV000704905 SCV000833878 uncertain significance Herpes simplex encephalitis, susceptibility to, 3 2018-03-28 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with TRAF3-related 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. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant is not present in population databases (ExAC no frequency). This sequence change replaces glutamic acid with lysine at codon 67 of the TRAF3 protein (p.Glu67Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine.

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