ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.14840C>A (p.Pro4947His)

gnomAD frequency: 0.00001  dbSNP: rs587783694
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
Genetic Services Laboratory, University of Chicago RCV000146173 SCV000193404 uncertain significance Kabuki syndrome 1 2013-02-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001849982 SCV002206143 benign Kabuki syndrome 2023-11-20 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004758648 SCV005364492 uncertain significance KMT2D-related disorder 2024-06-11 no assertion criteria provided clinical testing The KMT2D c.14840C>A variant is predicted to result in the amino acid substitution p.Pro4947His. This variant was reported as a variant of uncertain significance in an individual with Kabuki syndrome (Supplemental Table S3 in Faundes et al 2019. PubMed ID: 30459467). This variant is reported in 0.0061% of alleles in individuals of Latino descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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.