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Table 3 Genotypes of all WS probands in details and pathogenicity predictions

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