Identification of a rare SEPT9 variant in a family with autosomal dominant Charcot-Marie-Tooth disease

BMC Medical Genetics

Table 1 Rare heterozygous non-silent variant in the SEPT9 gene predicted to be deleterious identified in a german family with CMT

Sample	Chromosomal position (GRCh37/hg19)	Exon	Nucleotide change	Amino-acid change	SNP number	MAF	Prediction			ACMG
Sample	Chromosomal position (GRCh37/hg19)	Exon	Nucleotide change	Amino-acid change	SNP number	MAF	SIFT	PolyPhen-2	Mutation-Taster	ACMG
II.3 III.4	17:75488782	8	c.1406 T > C	p.(Val469Ala)	rs376712636	0.0006837	Deleterious	Benign	disease causing	Class 3 (VUS)
III.2	/	/	/	/	/	/	/	/	/	/

Abbreviations: ACMG American College of Medical Genetics and Genomics according to Richards et al. 2015 [10], Genetics in Medcine, MAF minor allele frequency in European (non-Finnish) population according to Exome Aggregation Consortium Browser (Beta); Reference sequence used: NM_006640. VUS variant of uncertain significance

ISSN: 1471-2350