2 Matching Annotations
  1. Mar 2021
  2. www.cell.com www.cell.com
    High-Throughput Reclassification of SCN5A Variants
    2
    1. shannon_mcnulty 18 Mar 2021
      Most Suspected Brugada Syndrome Variants Had (Partial) Loss of Function

      AssayResult: 47

      AssayResultAssertion: Indeterminate

      ReplicateCount: 10

      StandardErrorMean: 15.5

      Comment: This variant had a mix of multiple abnormalities: a partial loss of function of peak current (10-50% of wildtype) and a gain of function >10mV shift in activation voltage. Therefore it was considered to have inconclusive in vitro properties (neither normal nor abnormal in vitro function). (Personal communication: A. Glazer)

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:41 CAID:CA017513 ClinVarID:9399
    2. shannon_mcnulty 18 Mar 2021
      we selected 73 previously unstudied variants: 63 suspected Brugada syndrome variants and 10 suspected benign variants

      HGVS: NM_198056.2:c.3784G>A p.(Gly1262Ser)

      CGType:Variant CG:BulkAnnotation Variant:41 ClinVarID:9399 CAID:CA017513
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    cell.com/ajhg/fulltext/S0002-9297(20)30162-2