ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.10241_10247del (p.Tyr3414fs)

dbSNP: rs876657663
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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 RCV000214597 SCV000271273 likely pathogenic Primary dilated cardiomyopathy 2017-04-26 criteria provided, single submitter clinical testing The p.Tyr3414fs variant in TTN has not been previously reported in individuals w ith cardiomyopathy or in large population studies, though the ability of these s tudies to accurately detect deletions may be limited. This variant is predicted to cause a frameshift, which alters the protein?s amino acid sequence beginning at position 3414 and leads to a premature termination codon 7 amino acids downst ream. This alteration is then predicted to lead to a truncated or absent protein . Frameshift and other truncating variants in TTN are strongly associated with D CM if they are located in the exons encoding for the A-band (Herman 2012, Pugh 2 014) or are located in an exon that is highly expressed in the heart (Roberts 20 15). The p.Tyr3414fs variant is located in the I-band in the highly expressed ex on 44. In summary, although additional studies are required to fully establish i ts clinical significance, the p.Tyr3414fs variant is likely pathogenic.

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