ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.875_876delinsCCT (p.Leu292fs)

dbSNP: rs796052664
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000187943 SCV000241546 likely pathogenic not provided 2014-12-22 criteria provided, single submitter clinical testing c.875_877 delTCCinsCCT: p.Leu292_Leu293delinsProPhe (L292_L293delinsPF) in exon 6 of the KCNQ2 gene (NM_172107.2). The normal sequence with the deleted bases in braces and the inserted bases in brackets is: AGGC{TCC}[CCT]TTGC.The c.875_877 delTCCinsCCT variant, likely pathogenic, is caused by two nucleotide substitutions (c.875 T>C, p.L292P and c.877 C>T, p.L293F) altering adjacent amino acids on the same allele (in cis), denoted p.Leu292_Leu293delinsProPhe. The c.875_877 delTCCinsCCT variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. It results in an in-frame deletion of two Leucine residues and the insertion of a Proline and a Phenylalanine residue, denoted p.Leu292_Leu293delinsProPhe. 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. The c.875_877 delTCCinsCCT variant alters residues that are conserved through mammals, and other in-frame mutations have been reported in association with KCNQ2-related disorders. Therefore, this variant is a strong candidate for a pathogenic mutation, however the possibility that it is a benign variant cannot be excluded. The variant is found in EPILEPSYV2-1 panel(s).

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.