ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.56741del (p.Ser18914fs) (rs1553663867)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000768982 SCV000900355 likely pathogenic Cardiomyopathy 2015-09-03 criteria provided, single submitter clinical testing
Invitae RCV000642804 SCV000764491 likely pathogenic Dilated cardiomyopathy 1G; Limb-girdle muscular dystrophy, type 2J 2018-10-08 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the TTN gene (p.Ser18914Phefs*3). While this is not anticipated to result in nonsense mediated decay, it is expected to create a truncated TTN protein. 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.

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