Submissions for variant NM_001267550.2(TTN):c.4990C>T (p.Arg1664Trp)

gnomAD frequency: 0.00005  dbSNP: rs147695336

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000185166	SCV000238002	uncertain significance	not specified	2014-04-18	criteria provided, single submitter	clinical testing	Missense variants in the TTN gene are considered 'unclassified' if they are not previously reported in the literature and do not have >1% frequency in the population to be considered a polymorphism. Research indicates that truncating mutations in the TTN gene are expected to account for approximately 25% of familial and 18% of sporadic idiopathic DCM; however, truncating variants in the TTN gene have been reported in approximately 3% of reported control alleles. There has been little investigation into non-truncating variants. (Herman D et al. Truncations of titin causing dilated cardiomyopathy. N Eng J Med 366:619-628, 2012) The variant is found in CARDIOMYOPATHY panel(s).
Labcorp Genetics (formerly Invitae), Labcorp	RCV000642940	SCV000764627	uncertain significance	Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J	2017-09-15	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000729514	SCV000857184	uncertain significance	not provided	2017-09-30	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV003486761	SCV004239951	likely benign	Cardiomyopathy	2023-04-28	criteria provided, single submitter	clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	RCV000185166	SCV006069855	likely benign	not specified	2025-04-09	criteria provided, single submitter	clinical testing