Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000410594 | SCV000486534 | likely pathogenic | Carnitine palmitoyl transferase 1A deficiency | 2016-06-21 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000410594 | SCV002996167 | pathogenic | Carnitine palmitoyl transferase 1A deficiency | 2022-09-01 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 371065). This variant has not been reported in the literature in individuals affected with CPT1A-related conditions. This variant is present in population databases (rs753776604, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Phe462Leufs*69) in the CPT1A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CPT1A are known to be pathogenic (PMID: 16169268). |
Baylor Genetics | RCV000410594 | SCV004210993 | likely pathogenic | Carnitine palmitoyl transferase 1A deficiency | 2023-06-22 | criteria provided, single submitter | clinical testing |