Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Myriad Genetics, |
RCV002310448 | SCV002602434 | likely pathogenic | Carnitine palmitoyl transferase 1A deficiency | 2022-01-02 | criteria provided, single submitter | clinical testing | NM_001876.3(CPT1A):c.483delA(K161Nfs*23) is expected to be pathogenic in the context of carnitine palmitoyltransferase IA deficiency. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in CPT1A, a gene where loss-of-function variants are known to be pathogenic. Please note: this variant was assessed in the context of healthy population screening. |