Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
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 |
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. |
Ce |
RCV001756702 | SCV004130723 | uncertain significance | not provided | 2023-06-01 | criteria provided, single submitter | clinical testing | KMT2D: PM4 |
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 |