ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.1232C>T (p.Pro411Leu)

gnomAD frequency: 0.00001  dbSNP: rs754682495
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
Labcorp Genetics (formerly Invitae), Labcorp RCV000543280 SCV000634041 likely benign Early infantile epileptic encephalopathy with suppression bursts 2024-10-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002527747 SCV003587553 uncertain significance Inborn genetic diseases 2021-11-15 criteria provided, single submitter clinical testing The c.1232C>T (p.P411L) alteration is located in exon 11 (coding exon 11) of the KCNQ2 gene. This alteration results from a C to T substitution at nucleotide position 1232, causing the proline (P) at amino acid position 411 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen RCV004808753 SCV005432671 uncertain significance not provided 2024-11-01 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.