Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000667933 | SCV000792460 | uncertain significance | Carnitine palmitoyl transferase II deficiency, severe infantile form | 2017-06-27 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001564672 | SCV001787871 | likely pathogenic | not provided | 2019-10-24 | criteria provided, single submitter | clinical testing | Not observed at a significant frequency in large population cohorts (Lek et al., 2016); The majority of missense variants in this gene are considered pathogenic (Stenson et al., 2014); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 28801073, 12673791, 15363638, 31235404) |
Invitae | RCV001829845 | SCV003444192 | uncertain significance | Carnitine palmitoyltransferase II deficiency | 2022-08-03 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 161 of the CPT2 protein (p.Arg161Trp). This variant is present in population databases (rs756839691, gnomAD 0.002%). This missense change has been observed in individual(s) with adult-onset carnitine palmitoyltransferase II deficiency (PMID: 12673791). ClinVar contains an entry for this variant (Variation ID: 552637). 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.Arg161 amino acid residue in CPT2. Other variant(s) that disrupt this residue have been observed in individuals with CPT2-related conditions (PMID: 31770251), which suggests that this may be a clinically significant amino acid residue. 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. |
Baylor Genetics | RCV003472091 | SCV004211066 | pathogenic | Encephalopathy, acute, infection-induced, susceptibility to, 4 | 2023-07-08 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001829845 | SCV002090263 | likely pathogenic | Carnitine palmitoyltransferase II deficiency | 2020-09-03 | no assertion criteria provided | clinical testing |