Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Myriad Genetics, |
RCV002307340 | SCV002604812 | likely pathogenic | Argininosuccinate lyase deficiency | 2021-12-16 | criteria provided, single submitter | clinical testing | NM_001024943.1(ASL):c.243_244delGA(N82Lfs*3) is expected to be pathogenic in the context of argininosuccinic aciduria. This variant is predicted to lead to an abnormal or absent protein product due to the creation of a premature termination codon in ASL, 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. |