Submissions for variant NM_018723.4(RBFOX1):c.979_984del (p.Ala327_Ala328del)

dbSNP: rs974157467

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV003638673	SCV004532432	uncertain significance	Idiopathic generalized epilepsy	2022-10-29	criteria provided, single submitter	clinical testing	This variant is present in population databases (no rsID available, gnomAD 0.003%). 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 433120). This variant is also known as c.893_898delCTGCCG (p.A299_A300del). This variant has been observed in individual(s) with rolandic epilepsy (PMID: 24039908). This variant, c.1042_1047del, results in the deletion of 2 amino acid(s) of the RBFOX1 protein (p.Ala348_Ala349del), but otherwise preserves the integrity of the reading frame.
Bioinformatics Core, Luxembourg Center for Systems Biomedicine	RCV000656040	SCV000588316	pathogenic	Childhood epilepsy with centrotemporal spikes	2017-01-01	no assertion criteria provided	case-control	deletion