Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002033420 | SCV002269016 | uncertain significance | Carnitine palmitoyltransferase II deficiency | 2021-08-31 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamic acid with glutamine at codon 174 of the CPT2 protein (p.Glu174Gln). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and glutamine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with CPT2-related conditions. 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.Glu174 amino acid residue in CPT2. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 8682496, 9600456, 18577113). 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. |
Fulgent Genetics, |
RCV002497967 | SCV002787073 | uncertain significance | 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 | 2021-07-29 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003456268 | SCV004179347 | uncertain significance | Encephalopathy, acute, infection-induced, susceptibility to, 4 | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003453924 | SCV004179348 | uncertain significance | Carnitine palmitoyl transferase II deficiency, severe infantile form | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003453926 | SCV004179349 | uncertain significance | Carnitine palmitoyl transferase II deficiency, neonatal form | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003453925 | SCV004179350 | uncertain significance | Carnitine palmitoyl transferase II deficiency, myopathic form | 2023-04-11 | criteria provided, single submitter | clinical testing |