PHS FOI 2025-002191
- Date of request
- 31 July 2025
- Date of response
- 11 August 2025
- FOI request ID
- PHS FOI 2025-002191
- Population health
Request
“I am seeking information under the FOI Act. I am happy for your response to be via email.
My question is: How many individuals in Scotland were identified to have a CACNA1C rare variant as a result of genetic testing during the years 2021, 2022, 2023 and 2024? This information has been received for England, and I would like it to be comparable for these years.
Ideally, your response would indicate the classification of the finding (according to ACGS Best Practice Guidelines for Variant Classification in Rare Disease 2024 ie. Pathogenic, Likely pathogenic, Variant of Uncertain Significance, Likely benign, Benign and Conflicting interpretations of pathogenicity (if you use this clinical significance group too) alongside the number of individuals identified for each year.
Please could you detail in your answer which diagnostic test method confirmed the finding.
CACNA1C is listed in 4 cardiac panels in the Scottish Genomic Test Directory for Rare and Inherited Diseases - ARRHYTHMIA PANEL, BRUGADA SYNDROME AND SODIUM CHANNEL DISEASE, LONG QT SYNDROME and PAEDIATRIC CARDIOMYOPATHY.
The gene is responsible for presentations other than cardiac and so would also be picked up on CONGENITAL ABNORMALITIES, DEVELOPMENTAL DELAY, DEVELOPMENTAL DISORDERS NGS methods.
Worryingly CACNA1C should be listed as a gene on the CONGENITAL HYPERINSULINISM, EPILEPSY, HYPERTROPHIC CARDIOMYOPATHY (HCM), SHORT QT SYNDROME as reflected in the PanelApp directory in England. I would also appreciate signposting as to how we can apply for its inclusion please.
If you do not hold the data above I would also appreciate appropriate signposting as to who does have this data representing CACNA1C genetic findings in Scotland.”