ClinVar Miner

Submissions for variant NM_145725.3(TRAF3):c.233C>T (p.Ala78Val)

gnomAD frequency: 0.00004  dbSNP: rs775556588
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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 RCV001919378 SCV002192821 uncertain significance Herpes simplex encephalitis, susceptibility to, 3 2021-10-05 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with TRAF3-related conditions. This variant is present in population databases (rs775556588, ExAC 0.01%). This sequence change replaces alanine with valine at codon 78 of the TRAF3 protein (p.Ala78Val). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and valine.

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