Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
ARUP Laboratories, |
RCV001000590 | SCV001157570 | uncertain significance | Autoinflammatory syndrome, familial, Behcet-like | 2019-06-11 | criteria provided, single submitter | clinical testing | The TNFAIP3 c.742A>G; p.Ile248Val (rs587778711) variant, to our knowledge, is not reported in the medical literature or gene-specific databases. The variant is reported in the ClinVar database (Variation ID: 135336) and in the general population with an overall allele frequency of 0.006% (14/251446 alleles) in the Genome Aggregation Database. The amino acid at this position is highly conserved, but computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated. Due to limited information, the clinical significance of this variant is uncertain at this time. |
Invitae | RCV002517605 | SCV003488339 | uncertain significance | not provided | 2023-10-05 | criteria provided, single submitter | clinical testing | This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 248 of the TNFAIP3 protein (p.Ile248Val). This variant is present in population databases (rs587778711, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with TNFAIP3-related conditions. ClinVar contains an entry for this variant (Variation ID: 135336). 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 TNFAIP3 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. |
ITMI | RCV000122151 | SCV000086366 | not provided | not specified | 2013-09-19 | no assertion provided | reference population |