ClinVar Miner

Submissions for variant NM_145725.3(TRAF3):c.118A>G (p.Lys40Glu)

gnomAD frequency: 0.00002  dbSNP: rs764715452
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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 RCV001927786 SCV002171480 uncertain significance Herpes simplex encephalitis, susceptibility to, 3 2023-05-18 criteria provided, single submitter clinical testing 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant  is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 1404622). This variant has not been reported in the literature in individuals affected with TRAF3-related conditions. This variant is present in population databases (rs764715452, gnomAD 0.01%). This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 40 of the TRAF3 protein (p.Lys40Glu).

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