ClinVar Miner

Submissions for variant NM_170606.3(KMT2C):c.10207C>T (p.Arg3403Cys)

gnomAD frequency: 0.00001  dbSNP: rs201762858
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 RCV002227652 SCV002506711 uncertain significance Kleefstra syndrome 2 2021-04-23 criteria provided, single submitter clinical testing The heterozygous c.10207C>T (p.Arg3403Cys) variant identified in the KMT2C gene substitutes a well conserved Arginine for Cystine at amino acid 3403/4912 (exon 43/59). This variant is found with low frequency in gnomAD(v3.1.1) (2 heterozygotes, 0 homozygotes; allele frequency: 1.32e-5) suggesting it is not a common benign variant in the populations represented in that database. In silico algorithms predict this variant to be Damaging (SIFT; score:0.00) and Benign (REVEL; score:0.572) to the function of the canonical transcript. This variant is absent from ClinVar and to our current knowledge has not been reported in individuals affected with Kleefstra Syndrome in the literature. The p.Arg3403 residue is not within a mapped domain of KMT2C (UniProtKB:Q8NEZ4). Given the lack of compelling evidence for its pathogenicity, the heterozygous c.10207C>T (p.Arg3403Cys) variant identified in the KMT2C 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.