Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000169575 | SCV000221077 | likely pathogenic | Carnitine palmitoyl transferase 1A deficiency | 2015-01-23 | criteria provided, single submitter | literature only | |
Invitae | RCV000169575 | SCV001574869 | pathogenic | Carnitine palmitoyl transferase 1A deficiency | 2023-08-08 | 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) performed at Invitae indicates that this missense variant is expected to disrupt CPT1A protein function. ClinVar contains an entry for this variant (Variation ID: 189151). This missense change has been observed in individual(s) with CPT1A-related conditions (PMID: 21962599). It has also been observed to segregate with disease in related individuals. This variant is present in population databases (rs189174414, gnomAD 0.2%). This sequence change replaces lysine, which is basic and polar, with threonine, which is neutral and polar, at codon 455 of the CPT1A protein (p.Lys455Thr). |
Fulgent Genetics, |
RCV000169575 | SCV002778127 | likely pathogenic | Carnitine palmitoyl transferase 1A deficiency | 2022-03-03 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000169575 | SCV004211010 | likely pathogenic | Carnitine palmitoyl transferase 1A deficiency | 2023-03-09 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV000169575 | SCV002092953 | likely pathogenic | Carnitine palmitoyl transferase 1A deficiency | 2021-08-02 | no assertion criteria provided | clinical testing |