Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Myriad Genetics, |
RCV002306645 | SCV002602674 | likely pathogenic | Very long chain acyl-CoA dehydrogenase deficiency | 2022-01-25 | criteria provided, single submitter | clinical testing | NM_000018.3(ACADVL):c.658_659delTC(S220Kfs*32) is expected to be pathogenic in the context of very-long-chain acyl-CoA dehydrogenase deficiency. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in ACADVL, 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. |