Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Center for Human Genetics, |
RCV000659803 | SCV000781658 | likely pathogenic | Kabuki syndrome 1 | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003588662 | SCV004295033 | pathogenic | Kabuki syndrome | 2023-11-18 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln4270*) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with Kabuki syndrome (PMID: 23320472). ClinVar contains an entry for this variant (Variation ID: 547485). For these reasons, this variant has been classified as Pathogenic. |