Investigating diagnostic sequencing techniques for CADASIL diagnosis

Table 4 Novel variants identified via Sanger sequencing and the GRC 5-gene panel with in silico predictive scores of pathogenicity including MutationTaster, PredictSNP2, CADD, DANN, FATHMM, FunSeq2 and GWAVA

SAMPLE	Mutation	Cysteine altering	Exon	Between exons 2 and 24	MutationTaster	PredictSNP2 (%)	CADD (%)	DANN (%)	FATHMM (%)	FunSeq2 (%)	GWAVA (%)
CAD-390	Thr514Met	N	10	Y	Disease causing	87	65 (N)	73	56	62	?
CAD-528	Cys291Ser	Y	6	Y	Disease causing	87	84	60	83	62	?
CAD-535	Cys318Phe	Y	6	Y	Disease causing	87	84	60	82	62	?
CAD-630	Cys473Leu	Y	9	Y	Disease causing	82	84	77	63 (N)	62	51
CAD-640	Pro857Leu	N	17	Y	Disease causing	87	80	77	72	62	53 (N)

The percentage indicates how confident the tool is for determining a deleterious, neutral (N) or unknown (?) variant effect. Percentages listed with “(N)” indicated the percentage of confidence in calling a benign or non-damaging variants based off the in silico tool used. “?” indicates that the in silico tool could not determine whether the variant would be pathogenic or damaging

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