ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.2804dup (p.Val936fs)

dbSNP: rs794729393
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000184410 SCV000237035 uncertain significance not provided 2014-11-19 criteria provided, single submitter clinical testing c.2804dupC: p.Val936CysfsX2 in exon 17 in the TTN gene (NM_001256850.1). The c.2804dupC variant in the TTN gene has not been reported previously as a disease-causing mutation nor as a benign polymorphism to our knowledge. The c.2804dupC variant causes a frameshift starting with codon Valine 936, changes this amino acid to a Cysteine residue, and creates a premature Stop codon at position 2 of the new reading frame, denoted p.Val936CysfsX2. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.2804dupC variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.2804dupC as a variant of unknown significance. The variant is found in TTN panel(s).

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