Submissions for variant NM_001267550.2(TTN):c.23660-13CTT[2]

dbSNP: rs563250569

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000726256	SCV000237042	uncertain significance	not provided	2018-02-28	criteria provided, single submitter	clinical testing	The c.22709-7_22709-5delCTT variant hasnot been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. Thisvariant results in the deletion of one of three CTT repeats in intron 79 and in silico splice prediction programs predicta significant reduction in the efficiency of the natural splice acceptor site. However, the NHLBI Exome SequencingProject reports that the c.22709-7_22709-5delCTT was observed 3/7,848 alleles from individuals of Europeanancestry, including one homozygous individual. Furthermore, truncating variants in the TTN gene have been reportedin approximately 3% of reported control alleles and this variant is not located in the A-band region of titin, where themajority of variants associated with DCM have been reported (Herman et al., 2012).Therefore, based on the currently available information, it is unclear whether this variant is pathogenic or rare benign.
Eurofins Ntd Llc (ga)	RCV000726256	SCV000343216	uncertain significance	not provided	2016-07-14	criteria provided, single submitter	clinical testing
Invitae	RCV000468642	SCV000542916	uncertain significance	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2016-10-18	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002478633	SCV002784997	uncertain significance	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9	2021-11-03	criteria provided, single submitter	clinical testing