ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.11311+3440C>T (rs72647901)

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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 RCV000172717 SCV000051317 likely benign not provided 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000152453 SCV000201547 uncertain significance not specified 2014-09-12 criteria provided, single submitter clinical testing The Ala4239Val variant in TTN has been reported by our laboratory in 2 adults wi th HCM. It has also been identified in 2/8584 European American chromosomes and in 1/4380 African American chromosomes by the NHLBI Exome Sequencing Project (ht tp://evs.gs.washington.edu/EVS/; dbSNP rs72647901). Computational prediction too ls and conservation analysis are limited or unavailable for this variant. In sum mary, the clinical significance of the Ala4239Val variant is uncertain.
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000152453 SCV000703347 likely benign not specified 2017-11-30 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000172717 SCV001153136 uncertain significance not provided 2016-05-01 criteria provided, single submitter clinical testing
GeneDx RCV000172717 SCV000238110 not provided not provided 2014-04-27 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 CARDIOMYOPATHY panel(s).

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