ClinVar Miner

Submissions for variant NM_145725.3(TRAF3):c.490G>A (p.Asp164Asn)

dbSNP: rs2139857506
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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 RCV001873968 SCV002119090 uncertain significance Herpes simplex encephalitis, susceptibility to, 3 2022-02-10 criteria provided, single submitter clinical testing 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. 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. This variant has not been reported in the literature in individuals affected with TRAF3-related conditions. This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 164 of the TRAF3 protein (p.Asp164Asn). This variant is not present in population databases (gnomAD no frequency).

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