Total submissions: 7
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000413363 | SCV000490509 | pathogenic | not provided | 2020-06-24 | criteria provided, single submitter | clinical testing | Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge |
| Labcorp Genetics |
RCV001218021 | SCV001389888 | pathogenic | Carnitine palmitoyltransferase II deficiency | 2024-10-30 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Glu285Serfs*7) 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). This variant is present in population databases (no rsID available, gnomAD 0.002%). 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: 372351). For these reasons, this variant has been classified as Pathogenic. |
| Fulgent Genetics, |
RCV002505999 | SCV002808467 | 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 | 2024-02-26 | criteria provided, single submitter | clinical testing | |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV001218021 | SCV003928782 | likely pathogenic | Carnitine palmitoyltransferase II deficiency | 2023-04-05 | criteria provided, single submitter | clinical testing | Variant summary: CPT2 c.852delC (p.Glu285SerfsX7) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant allele was found at a frequency of 4e-06 in 250964 control chromosomes (gnomAD). To our knowledge, no occurrence of c.852delC in individuals affected with Carnitine Palmitoyltransferase II Deficiency and no experimental evidence demonstrating its impact on protein function have been reported. Four ClinVar submitters have assessed the variant since 2014: two classified the variant as likely pathogenic and two as pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic. |
| Genome- |
RCV000984251 | SCV004179416 | likely pathogenic | Carnitine palmitoyl transferase II deficiency, severe infantile form | 2023-04-11 | criteria provided, single submitter | clinical testing | |
| Baylor Genetics | RCV003475998 | SCV004211054 | likely pathogenic | Encephalopathy, acute, infection-induced, susceptibility to, 4 | 2024-03-30 | criteria provided, single submitter | clinical testing | |
| Counsyl | RCV000984251 | SCV001132374 | likely pathogenic | Carnitine palmitoyl transferase II deficiency, severe infantile form | 2015-04-16 | no assertion criteria provided | clinical testing |