Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Human Genetics, |
RCV000659764 | SCV000781615 | likely pathogenic | Kabuki syndrome 1 | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000760314 | SCV000890169 | pathogenic | not provided | 2021-10-25 | 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 (Lek et al., 2016); This variant is associated with the following publications: (PMID: 34553842, 23913813) |
Institute of Human Genetics, |
RCV000659764 | SCV001429476 | likely pathogenic | Kabuki syndrome 1 | 2018-06-04 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002530555 | SCV003441257 | pathogenic | Kabuki syndrome | 2022-06-22 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 547454). This premature translational stop signal has been observed in individual(s) with Kabuki syndrome (PMID: 23913813). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg2801*) in the KMT2D gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in KMT2D are known to be pathogenic (PMID: 22126750). |