ClinVar Miner

Submissions for variant NM_000098.3(CPT2):c.370C>T (p.Arg124Ter) (rs201065226)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000185829 SCV000238778 pathogenic not provided 2018-11-06 criteria provided, single submitter clinical testing The R124X nonsense pathogenic variant in the CPT2 gene has been reported previously in association with carnitine palmitoyltransferase II (CPT2) deficiency (Yang et al., 1998). This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The variant is found in CPT2 panel(s).
Counsyl RCV000411770 SCV000487388 likely pathogenic Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced 2015-12-21 criteria provided, single submitter clinical testing
Counsyl RCV000409811 SCV000487389 likely pathogenic Carnitine palmitoyltransferase II deficiency, infantile 2015-12-21 criteria provided, single submitter clinical testing
Counsyl RCV000410924 SCV000487390 likely pathogenic Carnitine palmitoyltransferase II deficiency, lethal neonatal 2015-12-21 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000185829 SCV000610687 pathogenic not provided 2017-10-02 criteria provided, single submitter clinical testing
Invitae RCV000707179 SCV000836264 pathogenic Carnitine palmitoyltransferase II deficiency 2017-09-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg124*) 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 been reported in individuals affected with carnitine palmitoyltransferase II deficiency (PMID: 9562964, 16996287, 22652984). ClinVar contains an entry for this variant (Variation ID: 203659). 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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