ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.51525del (p.Ser17177fs)

dbSNP: rs1553692435
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000642790 SCV000764477 likely pathogenic Dilated cardiomyopathy 1G; Autosomal recessive limb-girdle muscular dystrophy type 2J 2017-09-28 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with TTN-related disease. 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. 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). This variant is not present in population databases (ExAC no frequency). This sequence change results in a premature translational stop signal in the TTN gene (p.Ser17177Alafs*3). It is expected to result in an absent or disrupted protein product.
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV001256705 SCV001433108 pathogenic Dilated cardiomyopathy 1A 2019-01-30 criteria provided, single submitter clinical testing

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