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