Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Institute Of Human Genetics Munich, |
RCV000995576 | SCV001149819 | likely pathogenic | Kabuki syndrome 1 | 2019-02-22 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002549914 | SCV003441124 | pathogenic | Kabuki syndrome | 2022-06-08 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. This variant has been observed in individual(s) with Kabuki syndrome (PMID: 21658225, 23913813, 28884922, 33619735). 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 variant, c.15163_15168dup, results in the insertion of 2 amino acid(s) of the KMT2D protein (p.Asp5055_Leu5056dup), but otherwise preserves the integrity of the reading frame. |