ClinVar Miner

Submissions for variant NM_145725.3(TRAF3):c.718G>A (p.Val240Ile)

gnomAD frequency: 0.00005  dbSNP: rs200118821
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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 RCV001035288 SCV001198612 uncertain significance Herpes simplex encephalitis, susceptibility to, 3 2023-10-22 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 240 of the TRAF3 protein (p.Val240Ile). This variant is present in population databases (rs200118821, gnomAD 0.04%). This missense change has been observed in individual(s) with herpes simplex encephalitis (PMID: 31681265). ClinVar contains an entry for this variant (Variation ID: 834573). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The isoleucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.

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