ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.54740T>C (p.Met18247Thr) (rs200585270)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Biesecker Lab/Clinical Genomics Section,National Institutes of Health RCV000172311 SCV000051163 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
GeneDx RCV000289303 SCV000237305 uncertain significance not specified 2016-10-06 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 RCV001087555 SCV000286718 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-12-03 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000172311 SCV000345174 uncertain significance not provided 2016-09-16 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000172311 SCV001146434 likely benign not provided 2018-10-04 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000172311 SCV001714650 uncertain significance not provided 2020-12-08 criteria provided, single submitter clinical testing

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