ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.3835A>T (p.Met1279Leu) (rs374497665)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000347920 SCV000237983 uncertain significance not specified 2016-10-14 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).
Invitae RCV001084704 SCV000286623 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-08-23 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000725471 SCV000337163 uncertain significance not provided 2015-11-10 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV001262304 SCV001440118 uncertain significance Familial hypertrophic cardiomyopathy 9 2019-01-01 criteria provided, single submitter clinical testing This variant was identified as compound heterozygous.
Athena Diagnostics Inc RCV000725471 SCV001477133 likely benign not provided 2020-03-03 criteria provided, single submitter clinical testing

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