Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000704563 | SCV000833516 | uncertain significance | Carnitine palmitoyltransferase II deficiency | 2022-10-24 | 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 350 of the CPT2 protein (p.Arg350His). This variant is present in population databases (rs773966429, gnomAD 0.01%). 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: 580891). 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. 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. |
ARUP Laboratories, |
RCV003117499 | SCV003799502 | uncertain significance | not provided | 2022-07-08 | criteria provided, single submitter | clinical testing | The CPT2 c.1049G>A; p.Arg350His variant (rs773966429), to our knowledge, is not reported in the medical literature but is reported in ClinVar (Variation ID: 580891). This variant is only observed on only three chromosomes in the Genome Aggregation Database (3/251122 alleles), indicating it is not a common polymorphism. The arginine at codon 350 is highly conserved, and computational analyses predict that this variant is deleterious (REVEL: 0.928). Due to limited information, the clinical significance of the p.Arg350His variant is uncertain at this time. |
Genome- |
RCV003453498 | SCV004179459 | uncertain significance | Encephalopathy, acute, infection-induced, susceptibility to, 4 | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003453495 | SCV004179460 | uncertain significance | Carnitine palmitoyl transferase II deficiency, severe infantile form | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003453497 | SCV004179461 | uncertain significance | Carnitine palmitoyl transferase II deficiency, neonatal form | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV003453496 | SCV004179462 | uncertain significance | Carnitine palmitoyl transferase II deficiency, myopathic form | 2023-04-11 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000704563 | SCV002090285 | uncertain significance | Carnitine palmitoyltransferase II deficiency | 2019-10-28 | no assertion criteria provided | clinical testing |