ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.60197C>T (p.Pro20066Leu)

gnomAD frequency: 0.00012  dbSNP: rs750217838
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000218955 SCV000272710 uncertain significance not specified 2015-04-04 criteria provided, single submitter clinical testing The p.Pro17498Leu variant in TTN has not been reported in individuals with cardi omyopathy, but has been identified in 3/66678 European chromosomes and 2/11540 L atino chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadin stitute.org). Computational prediction and conservation analyses suggest that th is variant may impact the protein, though this information is not predictive eno ugh to determine pathogenicity. In summary, the clinical significance of the p.P ro17498Leu variant is uncertain.
Invitae RCV000529341 SCV000643457 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-05-31 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario RCV001798651 SCV002042569 uncertain significance Cardiomyopathy 2021-05-27 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000184675 SCV002770570 uncertain significance not provided 2021-07-29 criteria provided, single submitter clinical testing
GeneDx RCV000184675 SCV000237365 not provided not provided 2014-06-16 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 DCM-CRDM panel(s).

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