ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.11311+5250T>A (rs776361113)

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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 RCV000172434 SCV000051215 uncertain significance not provided 2013-06-24 criteria provided, single submitter research
GeneDx RCV000219979 SCV000238132 uncertain significance not specified 2014-04-15 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).
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000219979 SCV000271135 likely benign not specified 2015-02-16 criteria provided, single submitter clinical testing p.Asn4842Lys variant in exon 45A of TTN: This variant is not expected to have cl inical significance because it has been identified in 0.3% (24/8532) of East Asi an chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinsti tute.org).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000172434 SCV000706449 uncertain significance not provided 2017-02-23 criteria provided, single submitter clinical testing

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