Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Counsyl | RCV000673472 | SCV000798676 | likely pathogenic | Carnitine palmitoyl transferase II deficiency, severe infantile form | 2018-03-18 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV002531338 | SCV003502027 | pathogenic | Carnitine palmitoyltransferase II deficiency | 2023-02-16 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the CPT2 protein in which other variant(s) (p.Glu645Argfs*5) have been determined to be pathogenic (PMID: 17936304, 21913903). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 557340). 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.Leu644*) in the CPT2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 15 amino acid(s) of the CPT2 protein. |
| Genome- |
RCV000673472 | SCV004178363 | likely pathogenic | Carnitine palmitoyl transferase II deficiency, severe infantile form | 2023-04-11 | criteria provided, single submitter | clinical testing | |
| Baylor Genetics | RCV003472156 | SCV004211072 | likely pathogenic | Encephalopathy, acute, infection-induced, susceptibility to, 4 | 2023-06-19 | criteria provided, single submitter | clinical testing |