ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.7711G>A (p.Glu2571Lys) (rs149660690)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000185190 SCV000238034 uncertain significance not specified 2013-01-31 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 DCM panel(s).
Invitae RCV000535408 SCV000643695 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-03-21 criteria provided, single submitter clinical testing
Ambry Genetics RCV000620633 SCV000737053 likely benign Cardiovascular phenotype 2020-09-21 criteria provided, single submitter clinical testing In silico models in agreement (benign);Other strong data supporting benign classification
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000734888 SCV000863067 uncertain significance not provided 2018-08-23 criteria provided, single submitter clinical testing

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