Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001963272 | SCV002238573 | pathogenic | Koolen-de Vries syndrome | 2021-10-20 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with KANSL1-related conditions. For these reasons, this variant has been classified as Pathogenic. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln941Serfs*73) in the KANSL1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in KANSL1 are known to be pathogenic (PMID: 22544363, 22544367). |
Prevention |
RCV003408019 | SCV004109005 | likely pathogenic | KANSL1-related condition | 2023-05-14 | criteria provided, single submitter | clinical testing | The KANSL1 c.2821delC variant is predicted to result in a frameshift and premature protein termination (p.Gln941Serfs*73). To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Frameshift variants in KANSL1 are expected to be pathogenic. This variant is interpreted as likely pathogenic. |