Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001394441 | SCV001596125 | likely benign | not provided | 2023-12-27 | criteria provided, single submitter | clinical testing | |
ARUP Laboratories, |
RCV001802898 | SCV002048468 | uncertain significance | Autoinflammatory syndrome, familial, Behcet-like | 2021-04-17 | criteria provided, single submitter | clinical testing | The TNFAIP3 c.1634C>T; p.Ala545Val variant (rs142752989) is reported in the literature in a healthy individual from a large sequencing cohort (Bodian 2014), but has not been reported in association with disease. This variant is reported in ClinVar (Variation ID: 135338), and is found in the general population with an overall allele frequency of 0.044% (125/282850 alleles) in the Genome Aggregation Database. The alanine at codon 545 is moderately conserved and computational analyses predict that this variant is neutral (REVEL: 0.083).Due to limited information, the clinical significance of the p.Ala545Val variant is uncertain at this time. References: Bodian DL et al. Germline variation in cancer-susceptibility genes in a healthy, ancestrally diverse cohort: implications for individual genome sequencing. PLoS One. 2014 Apr 11;9(4):e94554. |
Prevention |
RCV003407525 | SCV004110894 | uncertain significance | TNFAIP3-related condition | 2023-06-04 | criteria provided, single submitter | clinical testing | The TNFAIP3 c.1634C>T variant is predicted to result in the amino acid substitution p.Ala545Val. To our knowledge, this variant has not been reported in the literature in association with TNFAIP3-related disease. This variant is reported in 0.087% of alleles in individuals of European (Non-Finnish) descent in gnomAD (http://gnomad.broadinstitute.org/variant/6-138200216-C-T), which may be too common to be causative of disease. Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |
Ce |
RCV001394441 | SCV004160372 | benign | not provided | 2022-05-01 | criteria provided, single submitter | clinical testing | TNFAIP3: BS1, BS2 |
ITMI | RCV000122153 | SCV000086368 | not provided | not specified | 2013-09-19 | no assertion provided | reference population |