Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Counsyl | RCV000674271 | SCV000799580 | likely pathogenic | Carnitine palmitoyl transferase II deficiency, severe infantile form | 2018-04-26 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV001218379 | SCV001390260 | pathogenic | Carnitine palmitoyltransferase II deficiency | 2023-11-06 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ile332Hisfs*2) in the CPT2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CPT2 are known to be pathogenic (PMID: 16781677, 16996287). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CPT2-related conditions. ClinVar contains an entry for this variant (Variation ID: 558056). For these reasons, this variant has been classified as Pathogenic. |
| Fulgent Genetics, |
RCV002493116 | SCV002790168 | likely pathogenic | Carnitine palmitoyl transferase II deficiency, severe infantile form; Carnitine palmitoyl transferase II deficiency, myopathic form; Carnitine palmitoyl transferase II deficiency, neonatal form; Encephalopathy, acute, infection-induced, susceptibility to, 4 | 2022-02-09 | criteria provided, single submitter | clinical testing | |
| Genome- |
RCV000674271 | SCV004179445 | likely pathogenic | Carnitine palmitoyl transferase II deficiency, severe infantile form | 2023-04-11 | criteria provided, single submitter | clinical testing | |
| Baylor Genetics | RCV003472167 | SCV004211040 | likely pathogenic | Encephalopathy, acute, infection-induced, susceptibility to, 4 | 2023-09-26 | criteria provided, single submitter | clinical testing |