Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Department Of Genetics, |
RCV000761467 | SCV000891573 | uncertain significance | Carnitine palmitoyl transferase II deficiency, severe infantile form | 2017-12-30 | criteria provided, single submitter | curation | |
Invitae | RCV002533867 | SCV003031173 | uncertain significance | Carnitine palmitoyltransferase II deficiency | 2022-06-01 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 631 of the CPT2 protein (p.Arg631His). This variant is present in population databases (no rsID available, gnomAD 0.008%). 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: 623327). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt CPT2 protein function. This variant disrupts the p.Arg631 amino acid residue in CPT2. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 1528846, 15754283, 16996287, 17651973). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Genome- |
RCV003453576 | SCV004178346 | uncertain significance | Encephalopathy, acute, infection-induced, susceptibility to, 4 | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000761467 | SCV004178347 | uncertain significance | Carnitine palmitoyl transferase II deficiency, severe infantile form | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003453575 | SCV004178348 | uncertain significance | Carnitine palmitoyl transferase II deficiency, neonatal form | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003453574 | SCV004178349 | uncertain significance | Carnitine palmitoyl transferase II deficiency, myopathic form | 2023-04-11 | criteria provided, single submitter | clinical testing |