ClinVar Miner

Submissions for variant NM_170606.3(KMT2C):c.13331C>A (p.Ala4444Asp)

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
Pittsburgh Clinical Genomics Laboratory, University of Pittsburgh Medical Center RCV004784928 SCV005397191 uncertain significance Kleefstra syndrome 2 2022-12-23 criteria provided, single submitter clinical testing This sequence variant is a single nucleotide substitution (C>A) at coding position 13331 of the KMT2C gene that results in an alanine to aspartic acid amino acid change at residue 4444 of the KMT2C protein. This variant has not been previously reported in databases of clinically relevant variants (ClinVar) and has not been observed in individuals with KMT2C-related illness, to our knowledge. This variant is present in the gnomAD population database (1 of 250922 alleles or 0.0004%). Multiple bioinformatic tools predict that this variant would be damaging, and the Ala4444 residue is highly conserved across the vertebrate species examined. Functiol studies testing the effect of this variant on protein structure or activity have not been performed, to our knowledge. At this time, there is insufficient evidence to determine if this variant is pathogenic or benign. Therefore, we consider this to be a variant of uncertain significance. ACMG Criteria: PM2, PP3

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.