Submissions for variant NM_001270508.2(TNFAIP3):c.2231G>A (p.Gly744Asp)

gnomAD frequency: 0.00043  dbSNP: rs150355046

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001391760	SCV001593388	likely benign	not provided	2024-01-02	criteria provided, single submitter	clinical testing
GeneDx	RCV001391760	SCV002061095	uncertain significance	not provided	2022-01-10	criteria provided, single submitter	clinical testing	Reported in an individual with axial spondyloarthritis, but detailed clinical and segregation information were not provided (Liu et al., 2017); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 28791018, 24728327)
CeGaT Center for Human Genetics Tuebingen	RCV001391760	SCV004010611	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	TNFAIP3: BP4, BS1
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV003761750	SCV004562529	uncertain significance	Autoinflammatory syndrome, familial, Behcet-like 1	2023-09-14	criteria provided, single submitter	clinical testing	The TNFAIP3 c.2231G>A; p.Gly744Asp variant (rs150355046), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 135348). This variant is found in the non-Finnish European population with an allele frequency of 0.07% (90/128,668 alleles) in the Genome Aggregation Database. Computational analyses predict that this variant is neutral (REVEL: 0.023). While the high population frequency suggests that this is likely a benign variant, given the lack of clinical and functional data, the significance of this variant is uncertain at this time.
PreventionGenetics, part of Exact Sciences	RCV003965029	SCV004784592	likely benign	TNFAIP3-related condition	2022-03-16	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
ITMI	RCV000122163	SCV000086378	not provided	not specified	2013-09-19	no assertion provided	reference population
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001391760	SCV001928367	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001391760	SCV001966572	likely benign	not provided		no assertion criteria provided	clinical testing