Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001217441 | SCV001389281 | likely pathogenic | Carnitine palmitoyl transferase 1A deficiency | 2024-01-17 | criteria provided, single submitter | clinical testing | This sequence change affects a donor splice site in intron 6 of the CPT1A gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in CPT1A are known to be pathogenic (PMID: 16169268). This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individual(s) with carnitine palmitoyltransferase 1A deficiency (PMID: 33845545). ClinVar contains an entry for this variant (Variation ID: 946554). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. |
Baylor Genetics | RCV001217441 | SCV004210999 | uncertain significance | Carnitine palmitoyl transferase 1A deficiency | 2023-04-25 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV001217441 | SCV005630242 | likely pathogenic | Carnitine palmitoyl transferase 1A deficiency | 2024-06-20 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001217441 | SCV002092965 | likely pathogenic | Carnitine palmitoyl transferase 1A deficiency | 2020-03-30 | no assertion criteria provided | clinical testing |