ClinVar Miner

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

dbSNP: rs974157467
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae 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

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