Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003588498 | SCV004294917 | likely pathogenic | Carnitine palmitoyl transferase 1A deficiency | 2023-09-21 | 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 595 of the CPT1A protein (p.Arg595Trp). This variant is present in population databases (rs576663980, gnomAD 0.0009%). This missense change has been observed in individual(s) with carnitine palmitoyltransferase I (CPT1) deficiency (PMID: 23430932). 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 expected to disrupt CPT1A protein function. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. |