Submissions for variant NM_001267550.2(TTN):c.80717G>A (p.Arg26906Gln)

gnomAD frequency: 0.00002  dbSNP: rs536183519

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000214574	SCV000272769	uncertain significance	not specified	2015-07-22	criteria provided, single submitter	clinical testing	The p.Arg24338Gln variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 1/16496 South Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSN P rs536183519). Computational prediction tools and conservation analysis suggest that the variant may impact the protein, though this information is not predict ive enough to determine pathogenicity. In summary, the clinical significance of the p.Arg24338Gln variant is uncertain.
Invitae	RCV000544924	SCV000643736	uncertain significance	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2017-05-16	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV000764313	SCV000895332	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	2018-10-31	criteria provided, single submitter	clinical testing
Revvity Omics, Revvity	RCV001529061	SCV003820173	uncertain significance	not provided	2021-10-13	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001529061	SCV001741878	uncertain significance	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV001529061	SCV001800302	uncertain significance	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV001529061	SCV001929745	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV001529061	SCV001972486	uncertain significance	not provided		no assertion criteria provided	clinical testing