Homozygous missense variant in the TTN gene causing autosomal recessive limb-girdle muscular dystrophy type 10

BMC Medical Genetics

Table 2 Homozygous variant on chromosome 2 from exome data of TTN family

Family	Individuals (IV:3 and IV:5)
Chr. Position (hg19)	chr2:179403855
Reference allele	G
Alternate allele	A
Gene	TTN
MIM	188,840
Gene Bank	NM_001267550.2
ExonicFunc.refgene	nonsynonymous SNV
cDNA Change	c.98807G > A
Amino Acid change	p.Arg32936His
1000G_ALL	0.00
ExAC_Freq	0.0001019
dbSNP	rs774296358
ClinVar_Status	–
SIFT Score &prediction	0.044/D
Polyphen2 score & prediction	0.99/PD
Mutation taster score &predict	0.99/D
FATHMM_score & prediction	0.7881/D
CADD score	24.3/D
ACMG Classification	PM2
Variant Status	Novel
Other Information’s	Homozygous

*SNV Single Nucleotide Variant, D Damaging, PD Probably Damaging,PM2 Pathogenic Moderate 2

ISSN: 1471-2350