Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001066765 | SCV001231783 | uncertain significance | Candidiasis, familial, 8 | 2022-06-13 | criteria provided, single submitter | clinical testing | This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 460 of the TRAF3IP2 protein (p.Val460Ile). This variant is present in population databases (rs775776262, gnomAD 0.06%), including at least one homozygous and/or hemizygous individual. This variant has not been reported in the literature in individuals affected with TRAF3IP2-related conditions. ClinVar contains an entry for this variant (Variation ID: 860464). 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 isoleucine 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. |
| Ambry Genetics | RCV004030625 | SCV004970601 | uncertain significance | not specified | 2023-02-27 | criteria provided, single submitter | clinical testing | The c.1378G>A (p.V460I) alteration is located in exon 7 (coding exon 6) of the TRAF3IP2 gene. This alteration results from a G to A substitution at nucleotide position 1378, causing the valine (V) at amino acid position 460 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |