ClinVar Miner

Submissions for variant NM_170606.3(KMT2C):c.1829_1830del (p.Thr610fs)

dbSNP: rs1588573059
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
GeneDx RCV001008359 SCV001168127 pathogenic not provided 2018-09-17 criteria provided, single submitter clinical testing The c.1829_1830delCA pathogenic variant in the KMT2C gene has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. This variant causes a frameshift starting with codon Threonine 610, changes this amino acid to a Serine residue and creates a premature Stop codon at position 4 of the new reading frame, denoted p.Thr610SerfsX4. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Furthermore, the c.1829_1830delCA variant is not observed in large population cohorts (Lek et al., 2016). Therefore, we interpret c.1829_1830delCA as a pathogenic variant.
Institute of Human Genetics, University of Leipzig Medical Center RCV002286427 SCV002576435 pathogenic Kleefstra syndrome 2 2022-08-29 criteria provided, single submitter clinical testing This variant was identified as de novo (maternity and paternity confirmed)._x000D_ Criteria applied: PVS1, PM2_SUP, PS4_SUP, PS2_MOD

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.