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Table 2 Genetic variants

From: An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge

Family Phenotype Gene Genetic mutationa Protein changea Predicted effect Interpretive status
1 Centronuclear myopathy TTN c.[35635G > C] + [39893-1G > A] p.[V11879L] + [spl] Splice/splice Likely pathogenic (research result)
  Hearing loss GJB2 c.[101 T > C] + [35delG] p.[M34T] + [G12Vfsa2] Deleterious missense/frameshift Clinically confirmed
2 Cardiac conduction defects TRPM4 c.503 T > A p.V168E Deleterious missense Likely pathogenic
3 Nemaline myopathy OBSCN c.[2245G > T] + [3322 T > A] p.[G749C] + [Y1108N] Missense Uncertain
   TTN c.[84130A > T] + [14492G > A] p.[K28044X] + [C4831Y] Missense/nonsense Uncertain
  1. aReference sequences as follows: TTN – NM_001256850.1 and NC_000002.11, GJB2 – NM_004004.5 and NC_000013.10, TRPM4 – NM_017636.3 and NC_000019.9, OBSCN – NM_001098623.1 and NC_000001.10.