ClinVar Miner

Submissions for variant NM_001267550.2(TTN):c.38442dup (p.Pro12815fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Johns Hopkins Genomics, Johns Hopkins University RCV001353359 SCV001548514 pathogenic Myopathy, myofibrillar, 9, with early respiratory failure 2021-03-16 criteria provided, single submitter clinical testing
GeneDx RCV001555419 SCV001776837 pathogenic not provided 2021-02-17 criteria provided, single submitter clinical testing Has not been previously reported in peer-reviewed literature as pathogenic or benign to our knowledge. However, in an abstract by Gruber et al. (2020), c.38442dupA was identified with a second TTN variant, phase unknown, in an individual with features of a congenital titinopathy; Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a region of the TTN gene for which loss-of-function is a known mechanism of disease

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