ClinVar Miner

Submissions for variant NM_145725.3(TRAF3):c.1466delinsTTCCTTG (p.Pro489delinsLeuProTrp)

dbSNP: rs1890546342
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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 RCV001248264 SCV001421735 uncertain significance Herpes simplex encephalitis, susceptibility to, 3 2019-01-26 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. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. This variant has not been reported in the literature in individuals with TRAF3-related conditions. This variant is not present in population databases (ExAC no frequency). This variant, c.1466delinsTTCCTTG, is a complex sequence change that results in the insertion of 2 amino acids of the TRAF3 protein (p.Pro489delinsLeuProSer).

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