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

dbSNP: rs762810380

Total submissions: 4

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