ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.81521del (p.Pro27174fs)

dbSNP: rs1553577362
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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 RCV000602156 SCV000713660 likely pathogenic Primary dilated cardiomyopathy 2017-09-04 criteria provided, single submitter clinical testing The p.Pro24606fs variant in TTN has not been previously reported in individuals with DCM or in large population studies. This variant is predicted to cause a fr ameshift, which alters the protein?s amino acid sequence beginning at position 2 4606 and leads to a premature termination codon 15 amino acids downstream. This alteration is then predicted to lead to a truncated or absent protein. Frameshif t and other truncating variants in TTN are strongly associated with DCM if they impact the exons encoding for the A-band (Herman 2012, Pugh 2014) and/or are loc ated in an exon that is highly expressed in the heart (Roberts 2015). The p.Pro2 4606fs variant is located in the A-band in the highly expressed exon 275. In sum mary, although additional studies are required to fully establish its clinical s ignificance, the p.Pro24606fs variant is likely pathogenic.

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