ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.104092C>T (p.Arg34698Ter) (rs727504184)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust RCV000209465 SCV000189765 uncertain significance Primary dilated cardiomyopathy 2014-10-08 criteria provided, single submitter research This TTN truncating variant (TTNtv) was identified in one individual in this cohort and is located in an exon that is highly expressed in the heart. In the seven cohorts assessed, TTNtv were found in 14% of ambulant DCM, 22% end-stage or familial DCM, and 2% controls. Heterozygous nonsense, frameshift and canonical splice-disrupting variants found in constitutive and other highly utilised exons are highly likely to be pathogenic when identified in individuals with phenotypically confirmed DCM. TTNtv found incidentally in healthy individuals (excluding familial assessment of DCM relatives) are thought to have low penetrance, particularly when identified in exons that are not constitutively expressed in the heart.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000177503 SCV000229379 likely pathogenic not provided 2014-03-06 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000343977 SCV000331560 likely pathogenic Hereditary myopathy with early respiratory failure 2014-03-06 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000402742 SCV000331561 likely pathogenic Distal myopathy Markesbery-Griggs type 2014-03-06 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000304339 SCV000331562 likely pathogenic Myopathy, early-onset, with fatal cardiomyopathy 2014-03-06 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000361410 SCV000331563 likely pathogenic Familial hypertrophic cardiomyopathy 9 2014-03-06 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000406368 SCV000331564 likely pathogenic Limb-girdle muscular dystrophy, type 2J 2014-03-06 criteria provided, single submitter clinical testing

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