Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000670313 | SCV000795149 | likely pathogenic | Carnitine palmitoyl transferase II deficiency, severe infantile form | 2017-10-27 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002532099 | SCV003496318 | pathogenic | Carnitine palmitoyltransferase II deficiency | 2023-06-29 | 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: 554639). This premature translational stop signal has been observed in individual(s) with CPT2 deficiency (PMID: 18925671). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Asn250Phefs*5) 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- |
RCV000670313 | SCV004179402 | likely pathogenic | Carnitine palmitoyl transferase II deficiency, severe infantile form | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV003472124 | SCV004211031 | pathogenic | Encephalopathy, acute, infection-induced, susceptibility to, 4 | 2023-10-22 | criteria provided, single submitter | clinical testing |