Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Human Genetics, |
RCV000007974 | SCV000781698 | pathogenic | Kabuki syndrome 1 | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV001265824 | SCV001443996 | pathogenic | Inborn genetic diseases | 2019-04-30 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV003147277 | SCV002016388 | pathogenic | not provided | 2020-10-12 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003588558 | SCV004295025 | pathogenic | Kabuki syndrome | 2023-03-08 | 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: 7538). This premature translational stop signal has been observed in individual(s) with Kabuki syndrome (PMID: 20711175, 32170002). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg5454*) 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). |
OMIM | RCV000007974 | SCV000028179 | pathogenic | Kabuki syndrome 1 | 2010-09-01 | no assertion criteria provided | literature only | |
Autoinflammatory diseases unit, |
RCV000007974 | SCV001438204 | pathogenic | Kabuki syndrome 1 | 2015-08-04 | no assertion criteria provided | clinical testing |