ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.64915C>T (p.Arg21639Ter) (rs1432889079)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000541256 SCV000642452 likely pathogenic Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2018-10-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg21639*) in the TTN gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with TTN-related disease. This variant is found in the A-band of this gene. While this particular variant has not been reported in the literature, truncating variants in the A-band of TTN are significantly overrepresented in patients with dilated cardiomyopathy and are considered to be likely pathogenic for the disease (PMID: 25589632). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Blueprint Genetics RCV000788718 SCV000927932 likely pathogenic not provided 2018-09-13 criteria provided, single submitter clinical testing

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