ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.105128G>A (p.Arg35043His) (rs370137295)

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Total submissions: 5
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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 RCV000172152 SCV000051298 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
GeneDx RCV000286045 SCV000237942 uncertain significance not specified 2015-04-02 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-CRDM panel(s).
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000172152 SCV000345171 uncertain significance not provided 2018-02-27 criteria provided, single submitter clinical testing
Invitae RCV000534990 SCV000642569 uncertain significance Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2017-08-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV000619680 SCV000735289 likely benign Cardiovascular phenotype 2019-07-15 criteria provided, single submitter clinical testing In silico models in agreement (benign);Other data supporting benign classification

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