ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.787G>C (p.Ala263Pro)

dbSNP: rs1697364931
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001312469 SCV001502925 uncertain significance Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 2021-08-27 criteria provided, single submitter clinical testing
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center RCV004783951 SCV005397153 uncertain significance Episodic ataxia, type 9 2023-03-20 criteria provided, single submitter clinical testing This sequence variant is a single nucleotide substitution (G>C) at coding position 787 in the SCN2A gene which results in an alanine to proline amino acid change at residue 263 in the SCN2A protein. This novel variant has not been reported previously in individuals with SCN2A-related disease, to our knowledge. This variant is absent from the gnomAD population database (0/~282000 alleles). Alanine is highly conserved at this protein position in vertebrates, and multiple bioinformatic tools predict that this amino acid change is deleterious. Functiol studies assessing the effect of this variant on protein structure or activity have not been performed, to our knowledge. At this time, there is insufficient evidence to determine if this variant is pathogenic or benign. Therefore, we consider it to be a variant of uncertain significance. ACMG Criteria: PM2, PP2, PP3

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.