VIC: Variant Interpretation Committee
Date: Thursday 12 May
Time: 13.00 – 14:30
Venue: Room 2
Workshop Chairs
- Finlay Macrae
- John Paul Plazzer
- Maurizio Genuardi
Presenters
- Modus operandi of the VIC – How do we formalize the membership of the VIC, what criteria,
terms of reference, covering Participation-based membership and Qualification for
membership? – Finlay Macrae - Interactions with InSiGHT database and European national databases. Interactions with
InSiGHT and the Prospective Lynch Syndrome database (Moller et al) Interaction with ClinGen
and ClinVar – John Paul Plazzer - Governance Committee membership altered – Maurizio Genuardi, Mike Woods, Rolf Sijmons,
Finlay Macrae - Quest negligence suit for variant misclassification – Finlay Macrae
- New InSiGHT database and features – John Paul Plazzer
Penetrance of path_MMR variants
- Suggested nomenclature for penetrance – Pål Møller
- Penetrance of path_PMS2 variants – Maartje Nielsen
- Degrees of imperfect splicing – Alexandra Martins
VIC Classification criteria updates -Finlay Macrae, John Paul Plazzer
- Initiation codon variants
- Nonsense/frameshift variants in the last exon
- 5’UTR variant guidelines
- Possibility of an “update” publication on the rules