ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.481C>T (p.Arg161Trp) (rs756839691)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667933 SCV000792460 uncertain significance Carnitine palmitoyltransferase II deficiency, infantile 2017-06-27 criteria provided, single submitter clinical testing
GeneDx RCV001564672 SCV001787871 likely pathogenic not provided 2019-10-24 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); The majority of missense variants in this gene are considered pathogenic (Stenson et al., 2014); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 28801073, 12673791, 15363638, 31235404)

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