Submissions for variant NM_001267550.2(TTN):c.56533A>C (p.Thr18845Pro)

gnomAD frequency: 0.00007  dbSNP: rs375000725

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000220952	SCV000272693	uncertain significance	not specified	2015-03-12	criteria provided, single submitter	clinical testing	The p.Thr16277Pro variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 5/64616 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP r s375000725). Computational prediction tools and conservation analysis do not pro vide strong support for or against an impact to the protein. In summary, the cli nical significance of the p.Thr16277Pro variant is uncertain.
Invitae	RCV000544463	SCV000643398	uncertain significance	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2017-11-13	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000727258	SCV000707045	uncertain significance	not provided	2017-03-20	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000764324	SCV000895343	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	2021-11-22	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV000727258	SCV003821051	uncertain significance	not provided	2023-01-02	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV003486775	SCV004239959	likely benign	Cardiomyopathy	2023-02-21	criteria provided, single submitter	clinical testing