ClinVar Miner

Submissions for variant NM_145725.3(TRAF3):c.604G>T (p.Val202Leu)

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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 RCV002795795 SCV003033862 uncertain significance Herpes simplex encephalitis, susceptibility to, 3 2023-06-23 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: 1989690). This variant has not been reported in the literature in individuals affected with TRAF3-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 202 of the TRAF3 protein (p.Val202Leu).

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