ClinVar Miner

Submissions for variant NM_147686.4(TRAF3IP2):c.1552G>T (p.Glu518Ter)

dbSNP: rs1562415808
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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 RCV000686611 SCV000814136 uncertain significance Candidiasis, familial, 8 2018-06-05 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the TRAF3IP2 gene (p.Glu518*). While this is not anticipated to result in nonsense mediated decay, it is expected to delete the last 48 amino acids of the TRAF3IP2 protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with TRAF3IP2-related disease. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in TRAF3IP2 cause disease. 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.

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