ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.11311+2950G>A (rs144690298)

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Total submissions: 4
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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 RCV000172718 SCV000051329 likely benign not provided 2013-06-24 criteria provided, single submitter research
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000041013 SCV000064704 benign not specified 2014-11-20 criteria provided, single submitter clinical testing p.Glu4076Lys in exon 45A of TTN: This variant is not expected to have clinical s ignificance because it has been identified in 1.5% (248/16608) of South Asian ch romosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute. org; dbSNP rs144690298).
GeneDx RCV000041013 SCV000238104 uncertain significance not specified 2014-10-06 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).
Clinical Genetics,Academic Medical Center RCV000041013 SCV001919166 benign not specified no assertion criteria provided clinical testing

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