Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV004730234 | SCV005338189 | likely pathogenic | KAT6B-related disorder | 2024-09-27 | no assertion criteria provided | clinical testing | The KAT6B c.5848_5849delGT variant is predicted to result in a frameshift and premature protein termination (p.Val1950Serfs*95). To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. This variant is located in the terminal exon. Only one other early termination change downstream has been reported as causative (Levy et al. 2022. PubMed ID: 35904121). Frameshift variants in KAT6B are expected to be pathogenic. This variant is interpreted as likely pathogenic. |