ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.5855_5857del (p.Asn1952_Leu1953delinsIle)

dbSNP: rs1553519782
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000523033 SCV000619948 uncertain significance not provided 2019-07-23 criteria provided, single submitter clinical testing Not observed in large population cohorts (Lek et al., 2016); In-frame deletion of 2 amino acids and insertion of 1 amino acids in a non-repeat region; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV002525199 SCV003223428 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2022-10-15 criteria provided, single submitter clinical testing 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: 451274). This variant has not been reported in the literature in individuals affected with SCN1A-related conditions. This variant is not present in population databases (gnomAD no frequency). This variant, c.5855_5857del, is a complex sequence change that results in the deletion of 2 and insertion of 1 amino acid(s) in the SCN1A protein (p.Asn1952_Leu1953delinsIle).

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.