Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000410758 | SCV000487639 | likely pathogenic | Carnitine palmitoyl transferase II deficiency, myopathic form | 2016-06-21 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000411774 | SCV000487640 | likely pathogenic | Carnitine palmitoyl transferase II deficiency, severe infantile form | 2016-06-21 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000409790 | SCV000487641 | likely pathogenic | Carnitine palmitoyl transferase II deficiency, neonatal form | 2016-06-21 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000762945 | SCV000893368 | 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 | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002524627 | SCV003484914 | pathogenic | Carnitine palmitoyltransferase II deficiency | 2023-08-04 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln472*) 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). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 371750). This premature translational stop signal has been observed in individual(s) with clinical features of CPT2-related conditions (Invitae). This variant is present in population databases (rs754386565, gnomAD 0.02%). |
Genome- |
RCV000411774 | SCV004179529 | likely pathogenic | Carnitine palmitoyl transferase II deficiency, severe infantile form | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV003475986 | SCV004211036 | likely pathogenic | Encephalopathy, acute, infection-induced, susceptibility to, 4 | 2023-10-11 | criteria provided, single submitter | clinical testing |