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The candidate variant identified in the family.
| Gene symbol | Nucleotide change | Amino acid change | SIFT | PolyPhen-2 | MutationTaster | Pathogenicity | ACMG evidence |
|---|---|---|---|---|---|---|---|
| WFS1 | c.2020G>T | p.Gly674Trp | Damaging | Damaging | Damaging | Pathogenic | PM2; PM5; PS4_S; PP1_S; PP3; PP4 |
PP1_S: PP1_Strong; PS4_S: PS4_Supporting.
