ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.337C>A (p.Pro113Thr)

dbSNP: rs794726711
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Bioinformatics, Peking University RCV000180815 SCV000221777 pathogenic Severe myoclonic epilepsy in infancy 2014-12-20 criteria provided, single submitter research
GeneDx RCV000188831 SCV000242460 pathogenic not provided 2017-07-13 criteria provided, single submitter clinical testing p.Pro113Thr (CCC>ACC): c.337 C>A in exon 2 of the SCN1A gene (NM_001165963.1) The Pro113Thr missense change has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. This variant is a non-conservative amino acid substitution of a non-polar Proline residue with a polar Threonine residue and the loss of a Proline may affect the secondary structure of the SCN1A protein. Pro113Thr alters a highly conserved position in the N-terminal region of the protein and multiple missense mutations at nearby codons have been reported in association with an SCN1A-related disorder. Additionally, in silico analysis predicts this variant is probably damaging to the protein structure/function. Therefore, based on the currently available information, Pro113Thr is a strong candidate for a disease-causing mutation. This variant has been observed de novo without verified parentage. The variant is found in INFANT-EPI panel(s).
Invitae RCV000636365 SCV000757804 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2021-08-28 criteria provided, single submitter clinical testing

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.