Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000790814 | SCV000228971 | pathogenic | not provided | 2013-06-05 | criteria provided, single submitter | clinical testing | |
Counsyl | RCV000793676 | SCV000799016 | likely pathogenic | Carnitine palmitoyl transferase 1A deficiency | 2018-04-04 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000793676 | SCV000933040 | pathogenic | Carnitine palmitoyl transferase 1A deficiency | 2023-08-21 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Tyr74*) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with CPT1A-related conditions. ClinVar contains an entry for this variant (Variation ID: 93972). For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV000793676 | SCV004211023 | pathogenic | Carnitine palmitoyl transferase 1A deficiency | 2022-01-02 | criteria provided, single submitter | clinical testing |