ClinVar Miner

Submissions for variant NM_170606.3(KMT2C):c.13198C>T (p.Arg4400Trp)

dbSNP: rs144905657
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
Baylor Genetics RCV001335514 SCV001528679 likely pathogenic Kleefstra syndrome 2 2018-08-08 criteria provided, single submitter clinical testing This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Ambry Genetics RCV002547340 SCV003600755 uncertain significance Inborn genetic diseases 2022-02-08 criteria provided, single submitter clinical testing The c.13198C>T (p.R4400W) alteration is located in exon 52 (coding exon 52) of the KMT2C gene. This alteration results from a C to T substitution at nucleotide position 13198, causing the arginine (R) at amino acid position 4400 to be replaced by a tryptophan (W). This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). This amino acid position is highly conserved in available vertebrate species. This alteration is predicted to be deleterious by in silico analysis. 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.