ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.65158C>A (p.Pro21720Thr)

gnomAD frequency: 0.00002  dbSNP: rs776953525
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Total submissions: 1
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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 RCV000217190 SCV000272721 uncertain significance not specified 2015-08-12 criteria provided, single submitter clinical testing The p.Pro19152Thr variant in TTN has not been previously reported in individuals with cardiomyopathy, but has been identified in 2/66502 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org). Prolin e (Pro) at position 19152 is poorly conserved in evolution and 12 fish species c arry a threonine (Thr), supporting that this change may be tolerated. In summary , the clinical significance of the p.Pro19152Thr variant is uncertain.

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