ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.81302G>T (p.Gly27101Val) (rs201490050)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000184873 SCV000701348 uncertain significance not provided 2017-04-25 criteria provided, single submitter clinical testing
Ambry Genetics RCV000619230 SCV000736938 likely benign Cardiovascular phenotype 2020-01-16 criteria provided, single submitter clinical testing Insufficient evidence
Invitae RCV001086421 SCV000765375 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-11-17 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV001706158 SCV001879708 likely benign not specified 2021-03-22 criteria provided, single submitter clinical testing
GeneDx RCV000184873 SCV000237612 not provided not provided 2014-04-14 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 DCM-CRDM panel(s).
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital RCV000678759 SCV000804938 uncertain significance Left ventricular hypertrophy 2015-11-04 no assertion criteria provided clinical testing

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