Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003574870 | SCV004335944 | pathogenic | not provided | 2023-10-22 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Leu1450Cysfs*13) in the KAT6A gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 555 amino acid(s) of the KAT6A protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with KAT6A-related conditions. ClinVar contains an entry for this variant (Variation ID: 988752). This variant disrupts a region of the KAT6A protein in which other variant(s) (p.Thr1762Hisfs*11) have been determined to be pathogenic (Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. |
Service de Génétique Moléculaire, |
RCV001270418 | SCV001450705 | likely pathogenic | Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome | 2020-09-25 | no assertion criteria provided | clinical testing |