Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV004730004 | SCV005337241 | likely pathogenic | KAT6B-related disorder | 2024-04-24 | no assertion criteria provided | clinical testing | The KAT6B c.4075delG variant is predicted to result in a frameshift and premature protein termination (p.Glu1359Argfs*20). To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. Frameshift variants in KAT6B are expected to be pathogenic. This variant is interpreted as likely pathogenic. |