Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000695487 | SCV000823990 | pathogenic | Kabuki syndrome | 2018-06-04 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in KMT2D are known to be pathogenic (PMID: 22126750). This variant has not been reported in the literature in individuals with KMT2D-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Gly1235Valfs*95) in the KMT2D gene. It is expected to result in an absent or disrupted protein product. |
Clinical Genetics and Genomics, |
RCV001269551 | SCV001449615 | pathogenic | not provided | 2015-10-21 | criteria provided, single submitter | clinical testing |