Submissions for variant NM_006267.5(RANBP2):c.406-2A>G

dbSNP: rs1695505484

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001318705	SCV001509418	uncertain significance	Familial acute necrotizing encephalopathy	2020-07-01	criteria provided, single submitter	clinical testing	This sequence change affects an acceptor splice site in intron 4 of the RANBP2 gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has not been reported in the literature in individuals with RANBP2-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. The current clinical and genetic evidence is not sufficient to establish whether loss-of-function variants in RANBP2 cause disease. 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.
CeGaT Center for Human Genetics Tuebingen	RCV004720852	SCV005329886	uncertain significance	not provided	2024-08-01	criteria provided, single submitter	clinical testing	RANBP2: PM2