ClinVar Miner

Submissions for variant NM_147686.4(TRAF3IP2):c.172G>A (p.Gly58Arg)

gnomAD frequency: 0.00002  dbSNP: rs201280730
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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 RCV001365142 SCV001561388 uncertain significance Candidiasis, familial, 8 2020-06-12 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with TRAF3IP2-related conditions. 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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 arginine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant is not present in population databases (ExAC no frequency). This sequence change replaces glycine with arginine at codon 58 of the TRAF3IP2 protein (p.Gly58Arg). The glycine residue is weakly conserved and there is a moderate physicochemical difference between glycine and arginine.

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