Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000665286 | SCV000789379 | likely pathogenic | Carnitine palmitoyl transferase II deficiency, severe infantile form | 2017-01-26 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002530652 | SCV003273334 | pathogenic | Carnitine palmitoyltransferase II deficiency | 2021-12-27 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 550520). This variant has not been reported in the literature in individuals affected with CPT2-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu174*) 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). |
Genome- |
RCV000665286 | SCV004179351 | likely pathogenic | Carnitine palmitoyl transferase II deficiency, severe infantile form | 2023-04-11 | criteria provided, single submitter | clinical testing |