Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001906586 | SCV002174033 | pathogenic | Carnitine palmitoyl transferase 1A deficiency | 2023-01-16 | 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: 1405623). This variant has not been reported in the literature in individuals affected with CPT1A-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Phe673*) 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 | RCV001906586 | SCV004211004 | likely pathogenic | Carnitine palmitoyl transferase 1A deficiency | 2023-04-07 | criteria provided, single submitter | clinical testing |