ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.64397-1G>C

dbSNP: rs876657668
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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 RCV000222488 SCV000271280 likely pathogenic Primary dilated cardiomyopathy 2015-03-20 criteria provided, single submitter clinical testing The c.56693-1G>C variant in TTN has not been reported in individuals with cardio myopathy and was absent from large population studies. This variant occurs in th e invariant region (+/- 1,2) of the splice consensus sequence and is predicted t o cause altered splicing leading to an abnormal or absent protein. Splice and ot her truncating variants in TTN are strongly associated with DCM and the majority occur in the A-band (Herman 2012, LMM unpublished data), where this variant is located. In summary, although additional studies are required to fully establish its clinical significance, the c.56693-1G>C variant is likely pathogenic.

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