ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.70275del (p.Ser23425fs)

dbSNP: rs727504655
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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 RCV000155919 SCV000205630 likely pathogenic Primary dilated cardiomyopathy 2013-08-11 criteria provided, single submitter clinical testing The Ser20857fs variant in TTN has not been reported in individuals with cardiomy opathy or in large population studies. This frameshift variant is predicted to a lter the protein?s amino acid sequence beginning at position 20857 and lead to a premature termination codon 4 amino acids downstream. This alteration is then p redicted to lead to a truncated or absent protein. Frameshift and other truncati ng variants in TTN are strongly associated with DCM and the majority occur in th e A-band (Herman 2012, LMM unpublished data), where this variant is located. In summary, this variant is likely to be pathogenic, though additional studies are required to fully establish its clinical significance.

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