ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.96659C>T (p.Thr32220Ile)

dbSNP: rs727505204
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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 RCV000156697 SCV000206418 uncertain significance not specified 2014-07-21 criteria provided, single submitter clinical testing The Thr29652Ile variant in TTN has not been previously reported in individuals w ith cardiomyopathy and was absent from large population studies. Threonine (Thr) at position 29652 is not conserved in mammals or evolutionarily distant species and 3 fish species carry an isoleucine (Ile) at this position, raising the poss ibility that a change at this position may be tolerated. In summary, the clinica l significance of the Thr296582Ile variant is uncertain.

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