ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.7649C>A (p.Pro2550His)

dbSNP: rs368698254
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 RCV000686273 SCV000813784 likely benign Kabuki syndrome 2023-07-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV004527738 SCV004106693 uncertain significance KMT2D-related disorder 2023-06-11 criteria provided, single submitter clinical testing The KMT2D c.7649C>A variant is predicted to result in the amino acid substitution p.Pro2550His. To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Ambry Genetics RCV004639320 SCV005133522 uncertain significance Inborn genetic diseases 2024-05-29 criteria provided, single submitter clinical testing The c.7649C>A (p.P2550H) alteration is located in exon 31 (coding exon 31) of the KMT2D gene. This alteration results from a C to A substitution at nucleotide position 7649, causing the proline (P) at amino acid position 2550 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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.