ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.105754C>T (p.Arg35252Ter) (rs886043924)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000432472 SCV000342639 likely pathogenic not provided 2016-06-21 criteria provided, single submitter clinical testing
GeneDx RCV000432472 SCV000534063 pathogenic not provided 2018-10-15 criteria provided, single submitter clinical testing The R32684X variant in the TTN gene has has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. It is located within the sarcomere M-line. The R32684X variant was not observed in approximately 6000 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 R32684X as a pathogenic variant.

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