Submissions for variant NM_133379.5(TTN):c.15768T>A (p.His5256Gln)

gnomAD frequency: 0.00013  dbSNP: rs138826545

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000222935	SCV000272857	uncertain significance	not specified	2015-03-20	criteria provided, single submitter	clinical testing	The p.His5256Gln variant in TTN has been identified by our laboratory in 1 Black adolescent with DCM and in 12/66530 European chromosomes by the Exome Aggregati on Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs138826545). Computa tional prediction tools and conservation analysis are limited or unavailable for this variant. In summary, the clinical significance of the p.His5256Gln variant is uncertain.
Fulgent Genetics, Fulgent Genetics	RCV002494577	SCV002776485	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
Clinical Genetics, Academic Medical Center	RCV000222935	SCV001925273	benign	not specified		no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000997559	SCV001963574	likely benign	not provided		no assertion criteria provided	clinical testing