ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.1408C>T (p.Pro470Ser)

gnomAD frequency: 0.00001  dbSNP: rs761594079
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
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 RCV000768255 SCV000898792 uncertain significance Kabuki syndrome 1 2018-05-25 criteria provided, single submitter clinical testing KMT2D NM_003482.3 exon 10 p.Pro470Ser (c.1408C>T): This variant has not been reported in the literature but is present in 1/33394 Latino alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs761594079). Evolutionary conservation and computational predictive tools for this variant are unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Labcorp Genetics (formerly Invitae), Labcorp RCV002533939 SCV003250095 benign Kabuki syndrome 2024-10-25 criteria provided, single submitter clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003224446 SCV003920127 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 10 p.Pro470Ser (c.1408C>T): This variant has not been reported in the literature but is present in 1/33394 Latino alleles in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rs761594079). Evolutionary conservation and computational predictive tools for this variant are unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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.