ClinVar Miner

Submissions for variant NM_147686.4(TRAF3IP2):c.1023-3T>C

dbSNP: rs2128375807
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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 RCV001988241 SCV002266097 uncertain significance Candidiasis, familial, 8 2021-10-22 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with TRAF3IP2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change falls in intron 3 of the TRAF3IP2 gene. It does not directly change the encoded amino acid sequence of the TRAF3IP2 protein. It affects a nucleotide within the consensus splice site. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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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