ClinVar Miner

Submissions for variant LMNA-NTRK1 fusion

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Michigan Center for Translational Pathology,University of Michigan RCV000754610 SCV000864230 pathogenic Infantile fibrosarcoma 2018-12-13 no assertion criteria provided clinical testing The LMNA–NTRK1 fusion protein encodes a coiled-coil dimerization domain of LMNA fused to the tyrosine kinase domain of NTRK1. LMNA–NTRK1 fusions have been implicated in a number of malignancies, including Spitz nevi (Wiesner et al. 2014), colorectal cancer (Sartore-Bianchi et al. 2015), lung cancer (Vaishnavi et al. 2013), soft-tissue sarcomas (Florian et al. 2016; Wong et al. 2016; Kohsaka et al. 2018), and a rare case of infantile-onset lipofibromatosis-like neural tumor (Bartenstein et al. 2018).

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