Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Human Genetics, |
RCV000659758 | SCV000781607 | pathogenic | Kabuki syndrome 1 | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Hudson |
RCV000659758 | SCV001192524 | pathogenic | Kabuki syndrome 1 | 2019-09-26 | criteria provided, single submitter | research | ACMG codes: PVS1, PM2, PP5 |
Gene |
RCV002255498 | SCV002526497 | pathogenic | not provided | 2021-12-20 | criteria provided, single submitter | clinical testing | Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25525159, 21280141) |
Prevention |
RCV004533446 | SCV004737757 | pathogenic | KMT2D-related disorder | 2024-02-03 | criteria provided, single submitter | clinical testing | The KMT2D c.7933C>T variant is predicted to result in premature protein termination (p.Arg2645*). This variant has been reported in multiple individuals with Kabuki syndrome (reported as de novo, Paulussen et al. 2011. PubMed ID: 21280141; Table S2, Bowling et al. 2022. PubMed ID: 34930662; Levy et al. 2022. PubMed ID: 35904121). This variant has not been reported in a large population database, indicating this variant is rare. Nonsense variants in KMT2D are expected to be pathogenic. This variant is interpreted as pathogenic. |