ClinVar Miner

Submissions for variant NM_145725.3(TRAF3):c.50C>T (p.Pro17Leu)

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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 RCV003870218 SCV004674551 uncertain significance Herpes simplex encephalitis, susceptibility to, 3 2023-02-25 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 17 of the TRAF3 protein (p.Pro17Leu). This variant is present in population databases (rs745517643, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with TRAF3-related conditions. 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. 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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