Table 2. Nucleotide variants with serious consequences identified by WES in a patient with cardiac conduction defect with IVF: results of pathogenicity prediction
GeneNCBI accession no.cDNA LevelProtein levelPathogenicity predictionAnnotation
Non‐synonymous variantsa
CLCN7 NM_001287.5 c.212C>Tp.Pro71LeuTolerated (100%)b rs145267254 (0.008%)
FLNC NM_001458.4 c.2245G>Ap.Val749AlaDiscordant (40%)c novel, unpublished
KCNK17 NM_031460.3 c.262G>Ap.Gly88ArgDamaging (100%)b rs141016843 (0.008%)
RAF1 NM_002880.3 c.607G>Ap.Asp203AsnTolerated (100%)b novel, unpublished
Insertion/deletion variants
CLCA4 d NM_012128.3 c.2656_2661delp.Thr886_Pro887delToleratedrs67478973
SMAD5 e NM_001001419.1 c.1314_1315insCNot alteredToleratedrs55765823 (0.000%)
Splice site variantse
SCN5A NM_198056.2 c.3963+1G>ASkip of exon 22Damagingnovel, unpublished
  • a Pathogenicity amended by PolyPhen‐2, SIFT, MutPred, SNPs&Go, SNAP.

  • b 100% of pathogenicity prediction tools (PPT) predict the same effect.

  • c 40% of PPT predict neutral impact.

  • d Pathogenicity amended by SIFT/Provean.

  • e Pathogenicity amended by Alamut.