ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.11849A>G (p.Gln3950Arg)

gnomAD frequency: 0.00008  dbSNP: rs751367935
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000768008 SCV000898787 uncertain significance Kabuki syndrome 1 2018-02-05 criteria provided, single submitter clinical testing KMT2D NM_003482.3 exon 39 p.Gln3950Arg (c.11849A>G): This variant has not been reported in the literature but is present in 4/70846 European alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs751367935). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
GeneDx RCV001572528 SCV001797187 likely benign not provided 2021-01-06 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 30459467)
Labcorp Genetics (formerly Invitae), Labcorp RCV001869057 SCV002144102 likely benign Kabuki syndrome 2024-12-10 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003224414 SCV003920117 uncertain significance Kabuki syndrome 1; Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome 2021-03-30 criteria provided, single submitter clinical testing KMT2D NM_003482.3 exon 39 p.Gln3950Arg (c.11849A>G): This variant has not been reported in the literature but is present in 4/70846 European alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs751367935). Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
PreventionGenetics, part of Exact Sciences RCV004540088 SCV004783569 uncertain significance KMT2D-related disorder 2023-11-30 no assertion criteria provided clinical testing The KMT2D c.11849A>G variant is predicted to result in the amino acid substitution p.Gln3950Arg. This variant was reported in an individual with Kabuki syndrome (Table S3, Faundes et al. 2019. PubMed ID: 30459467). This variant is reported in 0.016% of alleles in individuals of European (Finnish) descent in gnomAD. Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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.