Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Counsyl | RCV000669311 | SCV000794053 | likely pathogenic | Carnitine palmitoyl transferase II deficiency, severe infantile form | 2017-09-07 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV001215229 | SCV001386961 | pathogenic | Carnitine palmitoyltransferase II deficiency | 2025-01-31 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Lys537Glnfs*17) in the CPT2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 122 amino acid(s) of the CPT2 protein. 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: 553793). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This variant disrupts a region of the CPT2 protein in which other variant(s) (p.Pro595Glnfs*3) have been determined to be pathogenic (PMID: 8651281, 9600456, 18550408). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. |
| Genome- |
RCV000669311 | SCV004178277 | likely pathogenic | Carnitine palmitoyl transferase II deficiency, severe infantile form | 2023-04-11 | criteria provided, single submitter | clinical testing | |
| Baylor Genetics | RCV004568523 | SCV005058532 | likely pathogenic | Encephalopathy, acute, infection-induced, susceptibility to, 4 | 2024-02-12 | criteria provided, single submitter | clinical testing | |
| Fulgent Genetics, |
RCV005027801 | SCV005653639 | 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 | 2024-04-30 | criteria provided, single submitter | clinical testing |