ClinVar Miner

Submissions for variant NM_133379.5(TTN):c.11066del (p.Val3689fs)

gnomAD frequency: 0.00001  dbSNP: rs727503671
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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 RCV000152463 SCV000201570 uncertain significance not specified 2013-09-18 criteria provided, single submitter clinical testing The Val3689Glufs variant in TTN has not been previously reported in individuals with cardiomyopathy or in large population studies. This frameshift variant is p redicted to alter the protein?s amino acid sequence beginning at position 3689 a nd lead to a premature termination codon 12 amino acids downstream. This alterat ion is then predicted to lead to a truncated or absent protein. Frameshift and o ther truncating variants in TTN are strongly associated with DCM (Herman 2012); however, this variant is located in an exon that is only present in a transcript (Novex-3) whose function is unclear. Additional information is needed to fully assess the clinical significance of this variant.

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