ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.107681-4_107710del

dbSNP: rs1553476928
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000591778 SCV000709694 likely pathogenic not provided 2016-06-20 criteria provided, single submitter clinical testing The c.99977-4_100006del34 variant in the TTN gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to destroy the canonical splice acceptor site of intron 311, and is expected to cause abnormal gene splicing. The c.99977-4_100006del34 variant was not observed in approximately 5900 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The c.99977-4_100006del34 variant is a strong candidate for a pathogenic vairant, however the possibility it may be a rare benign variant cannot be excluded.

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