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: 115.6

      AssayResultAssertion: Normal

      ReplicateCount: 19

      StandardErrorMean: 24.7

      Comment: This variant had normal function (75-125% of wildtype peak current, <1% late current, no large perturbations to other parameters). These in vitro features are consistent with non-disease causing variants. (Personal communication: A. Glazer)

      CGType:FunctionalAssayResult CG:BulkAnnotation FuncAssay:1 Variant:29 CAID:CA016420 ClinVarID:67751
    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.26G>T p.(Gly9Val)

      CGType:Variant CG:BulkAnnotation Variant:29 ClinVarID:67751 CAID:CA016420
    Visit annotations in context

    Tags

    Annotators

    URL

    cell.com/ajhg/fulltext/S0002-9297(20)30162-2