ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.63269A>T (p.Tyr21090Phe)

dbSNP: rs377480514
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Total submissions: 3
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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 RCV000606624 SCV000710952 uncertain significance not specified 2016-07-18 criteria provided, single submitter clinical testing The p.Tyr18522Phe variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 2/66068 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP r s377480514). Computational prediction tools and conservation analysis suggest th at the p.Tyr18522Phe variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical signi ficance of the p.Tyr18522Phe variant is uncertain.
Fulgent Genetics, Fulgent Genetics RCV000765560 SCV000896875 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J; Tibial muscular dystrophy; Myopathy, myofibrillar, 9, with early respiratory failure; Early-onset myopathy with fatal cardiomyopathy; Hypertrophic cardiomyopathy 9 2018-10-31 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV003480708 SCV004225842 uncertain significance not provided 2022-03-17 criteria provided, single submitter clinical testing BP4, PM2

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