Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000169434 | SCV000220850 | likely pathogenic | Carnitine palmitoyl transferase II deficiency, severe infantile form | 2014-11-04 | criteria provided, single submitter | literature only | |
Invitae | RCV002515200 | SCV003523281 | pathogenic | Carnitine palmitoyltransferase II deficiency | 2023-09-20 | criteria provided, single submitter | clinical testing | This premature translational stop signal has been observed in individual(s) with carnitine palmitoyltransferase II deficiency (PMID: 16996287). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 189042). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gly13Alafs*60) 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- |
RCV000169434 | SCV004178248 | likely pathogenic | Carnitine palmitoyl transferase II deficiency, severe infantile form | 2023-04-11 | criteria provided, single submitter | clinical testing |