Submissions for variant NM_001267550.2(TTN):c.8902+14_8902+16delinsA

dbSNP: rs786200994

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000154094	SCV000203748	benign	not specified	2014-01-27	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000154094	SCV001361575	benign	not specified	2019-09-03	criteria provided, single submitter	clinical testing	Variant summary: TTN c.8902+14_8902+16delinsA alters a nucleotide located close to a canonical splice site and therefore could affect mRNA splicing. 5/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.049 in 261528 control chromosomes in the gnomAD database, including 1576 homozygotes. The observed variant frequency is approximately 79 fold of the estimated maximal expected allele frequency for a pathogenic variant in TTN causing Dilated Cardiomyopathy phenotype (0.00063), strongly suggesting that the variant is benign. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as benign.
Genome-Nilou Lab	RCV001840128	SCV002100982	benign	Autosomal recessive limb-girdle muscular dystrophy type 2J	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840129	SCV002100983	benign	Myopathy, myofibrillar, 9, with early respiratory failure	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840130	SCV002100984	benign	Early-onset myopathy with fatal cardiomyopathy	2021-09-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001840127	SCV002100986	benign	Tibial muscular dystrophy	2021-09-10	criteria provided, single submitter	clinical testing