ClinVar Miner

Submissions for variant NM_003482.4(KMT2D):c.11843_11860del (p.Leu3948_Gln3953del)

dbSNP: rs762810380
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001756702 SCV001986348 uncertain significance not provided 2020-11-04 criteria provided, single submitter clinical testing Reported in one individual with a clinical diagnosis of Kabuki syndrome and inherited from an apparently unaffected parent (Micale et al., 2014). In a subsequent paper, this variant was noted to be likely benign (Cocciadiferro et al., 2018); In silico analysis supports that this variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 30107592, 24633898)
Labcorp Genetics (formerly Invitae), Labcorp RCV002032776 SCV002114847 uncertain significance Kabuki syndrome 2024-11-03 criteria provided, single submitter clinical testing This variant, c.11843_11860del, results in the deletion of 6 amino acid(s) of the KMT2D protein (p.Leu3948_Gln3953del), but otherwise preserves the integrity of the reading frame. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This variant has been observed in individual(s) with Kabuki syndrome (PMID: 24633898). This variant has been observed in at least one individual who was not affected with KMT2D-related conditions (internal data). ClinVar contains an entry for this variant (Variation ID: 1303203). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
CeGaT Center for Human Genetics Tuebingen RCV001756702 SCV004130723 uncertain significance not provided 2023-06-01 criteria provided, single submitter clinical testing KMT2D: PM4
Fulgent Genetics, Fulgent Genetics RCV005006005 SCV005636350 likely benign Kabuki syndrome 1; Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome 2024-04-10 criteria provided, single submitter clinical testing

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.