ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.1345delinsTA (p.Gln449Ter) (rs1057517525)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000409771 SCV000487724 likely pathogenic Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced 2016-09-27 criteria provided, single submitter clinical testing
Counsyl RCV000410775 SCV000487725 likely pathogenic Carnitine palmitoyltransferase II deficiency, infantile 2016-09-27 criteria provided, single submitter clinical testing
Counsyl RCV000412327 SCV000487726 likely pathogenic Carnitine palmitoyltransferase II deficiency, lethal neonatal 2016-09-27 criteria provided, single submitter clinical testing
Invitae RCV000801602 SCV000941385 pathogenic Carnitine palmitoyltransferase II deficiency 2018-10-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln449*) in the CPT2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with CPT2-related disease. Loss-of-function variants in CPT2 are known to be pathogenic (PMID: 16781677, 16996287). For these reasons, this variant has been classified as Pathogenic.

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