ClinVar Miner

Submissions for variant NM_145725.3(TRAF3):c.488G>C (p.Arg163Pro)

dbSNP: rs774090745
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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 RCV002026399 SCV002302876 uncertain significance Herpes simplex encephalitis, susceptibility to, 3 2021-04-06 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The proline amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with TRAF3-related conditions. This variant is present in population databases (rs774090745, ExAC 0.002%). This sequence change replaces arginine with proline at codon 163 of the TRAF3 protein (p.Arg163Pro). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and proline.

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