. 2020 Mar 2;21:45. doi: 10.1186/s12881-020-0984-7

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
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	/	/	/	/	/	/	/	/	/	/

Sample

Chromosomal position (GRCh37/hg19)

Exon

Nucleotide change

Amino-acid change

SNP number

MAF

Prediction

ACMG

SIFT

PolyPhen-2

Mutation-Taster

II.3

III.4

17:75488782

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