ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.68195C>A (p.Ser22732Ter)

dbSNP: rs727505352
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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 RCV000156911 SCV000206632 likely pathogenic Primary dilated cardiomyopathy 2014-11-25 criteria provided, single submitter clinical testing The p.Ser20164X variant in TTN has not been previously reported in individuals w ith cardiomyopathy or in large population studies. This nonsense variant leads t o a premature termination codon at position 20164, which is predicted to lead to a truncated or absent protein. Nonsense and other truncating variants in TTN ar e strongly associated with DCM and the majority occur in the A-band (Herman 2012 , Pugh 2014), where this variant is located. In summary, although additional stu dies are required to fully establish its clinical significance, the p.Ser20164X variant is likely pathogenic.

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