ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.7484C>T (p.Pro2495Leu)

dbSNP: rs2120525921
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
New York Genome Center RCV001839231 SCV002099194 uncertain significance Kabuki syndrome 1 2021-03-26 criteria provided, single submitter clinical testing The inherited c.7484C>T (p.Pro2495Leu) variant identified in the KMT2D gene substitutes a conserved Proline for Leucine at amino acid 2495/5538 (exon 32/55). This variant is absent from gnomAD(v3.1.1) suggesting it is not a common benign variant in the populations represented in that database. In silico algorithms predict the variant to be Damaging (SIFT; score: 0.03) and Benign (REVEL; score:0.472) to the function of the canonical transcript. This variant is absent from ClinVar and to our current knowledge has not been reported in affected individuals in the literature. The p.Pro2495 residue is not within a mapped domain of KMT2D, but is in a region rich in Proline residues (UniProtKB:O14686). Given the lack of compelling evidence for its pathogenicity, the inherited c.7484C>T (p.Pro2495Leu) variant identified in the KMT2D gene is reported 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.