Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000638437 | SCV000759952 | pathogenic | Kabuki syndrome | 2021-12-18 | 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: 531888). This premature translational stop signal has been observed in individual(s) with Kabuki syndrome (PMID: 21671394, 27302555). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg5448*) 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). |
Center for Human Genetics, |
RCV000659834 | SCV000781697 | likely pathogenic | Kabuki syndrome 1 | 2016-11-01 | criteria provided, single submitter | clinical testing | |
Genomic Medicine Lab, |
RCV000659834 | SCV001572981 | pathogenic | Kabuki syndrome 1 | 2020-04-30 | criteria provided, single submitter | clinical testing | |
Genome |
RCV000659834 | SCV001749571 | not provided | Kabuki syndrome 1 | no assertion provided | phenotyping only | Variant interpreted as Pathogenic and reported on 09-02-2020 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information. |