ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.82859G>T (p.Cys27620Phe)

gnomAD frequency: 0.00001  dbSNP: rs762472521
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000216687 SCV000237634 uncertain significance not specified 2014-09-04 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, Mass General Brigham Personalized Medicine RCV000216687 SCV000272775 uncertain significance not specified 2015-01-16 criteria provided, single submitter clinical testing The p.Cys25052Phe variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 1/67644 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org). Comput ational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the p.Cys25052Phe variant is uncertain.
Revvity Omics, Revvity RCV003137737 SCV003824170 uncertain significance not provided 2021-02-17 criteria provided, single submitter clinical testing

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