Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001211934 | SCV001383502 | pathogenic | Kabuki syndrome | 2019-09-01 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in KMT2D are known to be pathogenic (PMID: 22126750). This variant has been observed in an individual affected with clinical features of Kabuki syndrome (PMID: 27302555). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gln3842*) in the KMT2D gene. It is expected to result in an absent or disrupted protein product. |
| 3billion | RCV001261303 | SCV005905154 | pathogenic | Kabuki syndrome 1 | 2023-12-26 | criteria provided, single submitter | clinical testing | The variant is not observed in the gnomAD v2.1.1 dataset. Predicted Consequence/Location: Stop-gained (nonsense): predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. The variant has been previously reported as assumed (i.e. paternity and maternity not confirmed) de novo in at least one similarly affected unrelated individual (PMID: 27302555). The variant has been reported to be associated with KMT2D related disorder (ClinVar ID: VCV000942030 /PMID: 27302555). Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline. |
| Autoinflammatory diseases unit, |
RCV001261303 | SCV001438114 | pathogenic | Kabuki syndrome 1 | 2013-10-01 | no assertion criteria provided | clinical testing |