Histopathology and molecular pathology confirmed a diagnosis of atypical Caroli’s syndrome: a case report

Diagnostic Pathology

Table 3 Bioinformatics analysis of the mutations

Mutation	SIFT		PolyPhen2		MutationTaster		FATHMM		PROVEAN		InterVar
Mutation	Score	prediction	Score	prediction	Score	prediction	Score	prediction	Score	prediction	prediction
PKHD1 c.T2507C p.V836A	0	deleterious	0.861	possibly_damaging	0.667	Polymor phism	-2.58	deleterious	-2.77	deleterious	Pathogenic/ Likely pathogenic
PKHD1 c.G10156C p.V3386L	0.003	deleterious	0.83	possibly_damaging	0.998	disease_causing	-2.37	deleterious	-4.86	deleterious	Pathogenic/ Likely pathogenic

SIFT PREDICTION (cutoff = 0.05)—tolerated or damaging
PolyPhen Prediction Score benign ≤ 0.5; probably damaging (> 0.5)
MutationTaster Prediction polymorphism or disease causing
FATHMM Prediction (weighted) torlerated or damaging
PROVEAN Prediction (cutoff = -2.5)—deleterious or neutral
InterVar is the classification of variants into 'Benign', 'Likely benign', 'Uncertain significance', 'Likely pathogenic' and 'Pathogenic' based on ACMG/AMP 2015 guideline

ISSN: 1746-1596