Submissions for variant NM_001267550.2(TTN):c.11546C>T (p.Pro3849Leu)

dbSNP: rs727503662

Total submissions: 2

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000152428	SCV000201478	uncertain significance	not specified	2013-07-17	criteria provided, single submitter	clinical testing	The Pro3611Leu variant in TTN has not been reported in the literature or in larg e population studies. Computational predictions are limited or unavailable for t his variant. Additional information is needed to fully assess the clinical signi ficance of this variant.
GeneDx	RCV000185289	SCV000238164	not provided	not provided	2014-04-08	no assertion provided	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).