Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000664606 | SCV000788599 | uncertain significance | Carnitine palmitoyl transferase II deficiency, severe infantile form | 2017-11-22 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003581704 | SCV004292323 | pathogenic | Carnitine palmitoyltransferase II deficiency | 2023-06-25 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on CPT2 protein function. ClinVar contains an entry for this variant (Variation ID: 550000). This missense change has been observed in individual(s) with carnitine palmitoyltransferase II deficiency (PMID: 10862092, 30957255). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 502 of the CPT2 protein (p.Ile502Thr). |