Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
RCV003402165 | SCV004111896 | likely pathogenic | CPT1A-related disorder | 2023-06-08 | criteria provided, single submitter | clinical testing | The CPT1A c.1593_1594delGA variant is predicted to result in a frameshift and premature protein termination (p.Glu531Aspfs*25). 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 CPT1A are expected to be pathogenic. This variant is interpreted as likely pathogenic. |