Submissions for variant NM_001267550.2(TTN):c.2360T>C (p.Ile787Thr)

gnomAD frequency: 0.00009  dbSNP: rs143444636

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000642937	SCV000764624	uncertain significance	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2017-11-27	criteria provided, single submitter	clinical testing
GeneDx	RCV001570866	SCV001795231	likely benign	not provided	2018-08-09	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002424459	SCV002729697	uncertain significance	Cardiovascular phenotype	2019-05-29	criteria provided, single submitter	clinical testing	The p.I741T variant (also known as c.2222T>C), located in coding exon 12 of the TTN gene, results from a T to C substitution at nucleotide position 2222. The isoleucine at codon 741 is replaced by threonine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity	RCV001570866	SCV003820309	uncertain significance	not provided	2022-06-29	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV001570866	SCV004148222	uncertain significance	not provided	2023-09-01	criteria provided, single submitter	clinical testing	TTN: PM2