ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.77100dup (p.Pro25701fs) (rs794729343)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center of Genomic medicine, Geneva,University Hospital of Geneva RCV000211514 SCV000268508 pathogenic Dilated cardiomyopathy 1G 2015-09-18 criteria provided, single submitter clinical testing Loss of function mutations of TTN gene are known to cause dilated cardiomyopathy. Here we report a patient with dilated non-compaction cardiomyopathy harbouring a loss of function mutation that is predicted to result in a truncated TTN protein (loss of the N-terminal part).
Invitae RCV000698920 SCV000827611 likely pathogenic Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2018-02-27 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the TTN gene (p.Pro25701Thrfs*9). While this is not anticipated to result in nonsense mediated decay, it is expected to create truncated TTN protein. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual affected with dilated cardiomyopathy (PMID: 27353043). This variant is also known as NM_003319.4:c.49905dup (p.Pro16636Thrfs*9). ClinVar contains an entry for this variant (Variation ID: 202470). 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.

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