ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.3895C>T (p.Arg1299Cys)

gnomAD frequency: 0.00001  dbSNP: rs773797737
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 RCV001876758 SCV002119086 benign Kabuki syndrome 2024-04-10 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004529030 SCV004109825 uncertain significance KMT2D-related disorder 2022-11-07 criteria provided, single submitter clinical testing The KMT2D c.3895C>T variant is predicted to result in the amino acid substitution p.Arg1299Cys. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0052% of alleles in individuals of East Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/12-49443476-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Fulgent Genetics, Fulgent Genetics RCV005006106 SCV005636044 uncertain significance Kabuki syndrome 1; Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome 2024-03-12 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.