ClinVar Miner

Submissions for variant NM_170606.3(KMT2C):c.9291G>A (p.Met3097Ile)

dbSNP: rs747180312
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
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV001779965 SCV001960967 uncertain significance Kleefstra syndrome 2 2021-02-04 criteria provided, single submitter research A heterozygous missense variation in exon 39 of the KMT2C gene that results in the amino acid substitution of Isoleucine for Methionine at codon 3097 was detected. The observed variant c.9291G>A (p.Met3097Ile) has not been reported in the 1000 genomes and gnomAD databases. The in silico prediction of the variant is damaging by SIFT, LRT and MutationTaster2. The reference codon is conserved across species. Segregation analysis showed the variant to be maternal in origin. In summary, the variant meets our criteria to be classified as a variant of uncertain significance.

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.