ClinVar Miner

Submissions for variant NM_145725.3(TRAF3):c.874C>T (p.His292Tyr)

gnomAD frequency: 0.00001  dbSNP: rs1566806030
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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 RCV001995292 SCV002256209 uncertain significance Herpes simplex encephalitis, susceptibility to, 3 2022-07-12 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. 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"). ClinVar contains an entry for this variant (Variation ID: 1470718). This variant has not been reported in the literature in individuals affected with TRAF3-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.007%). This sequence change replaces histidine, which is basic and polar, with tyrosine, which is neutral and polar, at codon 292 of the TRAF3 protein (p.His292Tyr).

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