From: A comprehensive genotype–phenotype evaluation of eight Chinese probands with Waardenburg syndrome
Family ID | Clinical Diagnosis | Inheritance status | Gene | cDNA | Protein change | Zygote | Novelty | ACMG classification | ACMG criteria |
---|---|---|---|---|---|---|---|---|---|
F-1 | WS2 | Familial | SOX10 | c.553 C > T | p. Gln185* | Heterozygous | Novel | Pathogenic | PVS1 + PM2 + PP4 |
F-2 | WS1 | Familial | PAX3 | c.452-2 A > G | – | Heterozygous | (Tassabehji et al.,1994) | Pathogenic | PVS1 + PM2 + PP5 |
F-3 | WS1 | Familial | PAX3 | c.838delG | p. Ala280fs*4 | Heterozygous | Novel | Pathogenic | PVS1 + PM2 + PP4 |
S-4 | WS1 | – | PAX3 | c.214 A > G | p. Ile72Val | Heterozygous | Novel | Variants of uncertain significance | PM1 + PM2 + PP3 |
S-5 | WS2 | – | SOX10 | c.336G > A | p. Met112Ile | Heterozygous | (Chaoui et al.,2011) | Likely Pathogenic | PS1 + PM2 + PP3 |
S-6 | WS2 | De novo | SOX10 | c.544_557delAAGGCCGCCCAGGG | p.Lys182Argfs*94 | Heterozygous | Novel | Pathogenic | PVS1 + PS2 + PM2 |
S-7 | WS1 | – | MITF | c.626 A > T | p. His209Leu | Heterozygous | Novel | Likely Pathogenic | PM1 + PM2 + PP3 + PM5 |
S-8 | WS2 | – | SOX10 | c.762delA | p. Asp255Thr fs*31 | Heterozygous | Novel | Pathogenic | PVS1 + PM2 |