ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.60002C>T (p.Pro20001Leu)

gnomAD frequency: 0.00006  dbSNP: rs727505345
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Total submissions: 2
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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 RCV000156900 SCV000206621 uncertain significance not specified 2014-12-03 criteria provided, single submitter clinical testing The p.Pro17433Leu variant in TTN has not been previously reported in individual with cardiomyopathy and was absent from large population studies. Computational prediction tools and conservation analysis suggest that the p.Pro17433Leu varian t may impact the protein, though this information is not predictive enough to de termine pathogenicity. In summary, the clinical significance of the p.Pro17433Le u variant is uncertain.
Invitae RCV000643096 SCV000764783 uncertain significance Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-12-20 criteria provided, single submitter clinical testing

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