ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.31472T>C (p.Met10491Thr)

gnomAD frequency: 0.00004  dbSNP: rs769226745
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000215019 SCV000237067 uncertain significance not specified 2014-05-06 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 DCM-CRDM panel(s).
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000215019 SCV000272620 uncertain significance not specified 2014-12-31 criteria provided, single submitter clinical testing The p.Met9247Thr variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 4/61848 of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org). Comp utational prediction tools and conservation analysis do not provide strong suppo rt for or against an impact to the protein. In summary, the clinical significanc e of the p.Met9247Thr variant is uncertain.
Invitae RCV000457716 SCV000543032 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2016-10-03 criteria provided, single submitter clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego RCV000852877 SCV000995611 likely benign Primary dilated cardiomyopathy 2017-08-21 criteria provided, single submitter clinical testing

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