Bicuspid Aortic Valve: Role of Multiple Gene Variants in Influencing the Clinical Phenotype

Table 1

Characteristics of rare variants identified in the proband case by NGS analysis.

Gene	RefSeq	Exon	Variant description	dbSNP code; MAF	In silico analysis
					SIFT	POLYPHEN	FATHMM	MUTATION TASTER
NOTCH1	NM_017617	28	c.[5215G>A]+[=]; p.[Val1739Met]+[=]	rs377294245; MAF (ExAC) = 0.00009	Tolerated	Possibly Damaging	Damaging	Disease Causing
FBN1	NM_000138	13	c.[1625G>A]+[=]; p.[Asn542Ser]+[=]		Tolerated	Benign	Damaging	Disease Causing
FBN1	NM_000138	59	c.[7379A>G]+[=]; p.[Lys2460Arg]+[=]	rs144189837; MAF (ExAC) = 0.00007	Tolerated	Probably Damaging	Damaging	Disease Causing
LTBP1	NM_206963	26	c. [3989G>A]+[=]; p.[Arg1330Gln]+[=]	rs141080282; MAF (EU)=0.005	Tolerated	Possibly Damaging	Tolerated	Disease Causing
TGFBR3	NM_003243	8	c.[1267C>T]+[=]; p.[Arg423Trp]+[=]	rs766001542; MAF (ExAC) = 0.00003	Tolerated	Benign	Tolerated	Polymorphism

MAF: minor allele frequency; EU: European population; ExAC: ExAC Consortium population.