ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.53517_53519del (p.Lys17840del)

dbSNP: rs727504701
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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 RCV000155984 SCV000205696 uncertain significance not specified 2014-07-17 criteria provided, single submitter clinical testing The Lys15272del variant in TTN has not been reported in individuals with cardiom yopathy or in large population studies. This variant is a deletion of the lysine (Lys) residue at position 15272 and is not predicted to alter the protein readi ng-frame. It is currently unclear how this deletion would impact the protein. Ad ditional information is needed to fully assess the clinical significance of the Lys15272del variant.

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