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
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