ClinVar Miner

Submissions for variant NM_145725.3(TRAF3):c.1111G>A (p.Ala371Thr)

gnomAD frequency: 0.00001  dbSNP: rs551555655
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002034535 SCV002115574 uncertain significance Herpes simplex encephalitis, susceptibility to, 3 2023-04-26 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 371 of the TRAF3 protein (p.Ala371Thr). This variant is present in population databases (rs551555655, gnomAD 0.05%). 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: 1321337). This variant has not been reported in the literature in individuals affected with TRAF3-related conditions.
Al Jalila Children’s Genomics Center, Al Jalila Childrens Speciality Hospital RCV001779432 SCV002014794 risk factor Multisystem inflammatory syndrome in children 2021-11-14 no assertion criteria provided research

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