ClinVar Miner

Submissions for variant NM_147686.4(TRAF3IP2):c.691C>T (p.Leu231Phe)

gnomAD frequency: 0.00010  dbSNP: rs149860754
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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 RCV000695239 SCV000823725 uncertain significance Candidiasis, familial, 8 2022-10-17 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with phenylalanine, which is neutral and non-polar, at codon 231 of the TRAF3IP2 protein (p.Leu231Phe). This variant is present in population databases (rs149860754, gnomAD 0.06%). This missense change has been observed in individual(s) with psoriatic arthritis (PMID: 22513239). ClinVar contains an entry for this variant (Variation ID: 573542). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt TRAF3IP2 protein function. Experimental studies have shown that this missense change does not substantially affect TRAF3IP2 function (PMID: 22513239). 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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