ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.19922C>A (p.Thr6641Asn) (rs747240394)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000220599 SCV000238271 uncertain significance not specified 2016-09-21 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 DCM panel(s).
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000220599 SCV000270983 likely benign not specified 2015-11-12 criteria provided, single submitter clinical testing p.Thr5397Asn in exon 65 of TTN: This variant is not expected to have clinical si gnificance because it has been identified in 0.33% (38/11558) of Latino chromoso mes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org).
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000220599 SCV000335955 likely benign not specified 2015-10-02 criteria provided, single submitter clinical testing
Invitae RCV000469447 SCV000555304 likely benign Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2020-09-30 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health,University of California San Diego RCV000852898 SCV000995634 likely benign Cardiomyopathy 2018-09-04 criteria provided, single submitter clinical testing

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