Grigori Zinoviev
We've heard of Stalin and Kamenev. Who was Grigori Zinoviev? What is his significance?
Grigori Zinoviev
We've heard of Stalin and Kamenev. Who was Grigori Zinoviev? What is his significance?
Results for individual PALB2 variants were normalized relative to WT-PALB2 and the p.Tyr551ter (p.Y551X) truncating variant on a 1:5 scale with the fold change in GFP-positive cells for WT set at 5.0 and fold change GFP-positive cells for p.Y551X set at 1.0. The p.L24S (c.71T>C), p.L35P (c.104T>C), p.I944N (c.2831T>A), and p.L1070P (c.3209T>C) variants and all protein-truncating frame-shift and deletion variants tested were deficient in HDR activity, with normalized fold change <2.0 (approximately 40% activity) (Fig. 1a).
AssayResult: 2.4
AssayResultAssertion: Abnormal
StandardErrorMean: 0.22
Comment: This variant is reported as a potential hypomorphic variant.
A total of 84 PALB2 patient-derived missense variants reported in ClinVar, COSMIC, and the PALB2 LOVD database were selected
HGVS: NM_024675.3:c.3549C>A p.(Tyr1183Ter)
Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function
AssayResult: 1.3
AssayResultAssertion: Abnormal
ReplicateCount: 67
StandardErrorMean: 0.3
Comment: This variant had loss of function of peak current (<10% of wildtype), therefore it was considered abnormal (in vitro features consistent with Brugada Syndrome Type 1). (Personal communication: A. Glazer)
we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants
HGVS: NM_198056.2:c.844C>T p.(Arg282Cys)