Submissions for variant NM_002460.4(IRF4):c.1351G>T (p.Glu451Ter)

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV003086298	SCV003473774	uncertain significance	not provided	2024-02-18	criteria provided, single submitter	clinical testing	This sequence change creates a premature translational stop signal (p.Glu451*) in the IRF4 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 1 amino acid(s) of the IRF4 protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with IRF4-related conditions. ClinVar contains an entry for this variant (Variation ID: 2160794). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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.
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden	RCV003086298	SCV004026392	uncertain significance	not provided	2023-06-20	criteria provided, single submitter	clinical testing	PM2_SUP
CeGaT Center for Human Genetics Tuebingen	RCV003086298	SCV005074349	uncertain significance	not provided	2024-06-01	criteria provided, single submitter	clinical testing	IRF4: PM2