ClinVar Miner

Submissions for variant NM_147686.4(TRAF3IP2):c.1058G>C (p.Gly353Ala)

dbSNP: rs148619849
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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 RCV000696808 SCV000825387 uncertain significance Candidiasis, familial, 8 2021-08-24 criteria provided, single submitter clinical testing This sequence change replaces glycine with alanine at codon 353 of the TRAF3IP2 protein (p.Gly353Ala). The glycine residue is weakly conserved and there is a small physicochemical difference between glycine and alanine. This variant is not present in population databases (ExAC no frequency). This missense change has been observed in individual(s) with psoriatic arthritis (PMID: 22513239). ClinVar contains an entry for this variant (Variation ID: 574786). 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 alanine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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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