Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000670972 | SCV000795903 | likely pathogenic | Argininosuccinate lyase deficiency | 2017-11-29 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000670972 | SCV004200578 | likely pathogenic | Argininosuccinate lyase deficiency | 2023-10-19 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000670972 | SCV004538775 | pathogenic | Argininosuccinate lyase deficiency | 2023-07-16 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Asp38Glnfs*27) in the ASL gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ASL are known to be pathogenic (PMID: 2263616, 24166829). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ASL-related conditions. ClinVar contains an entry for this variant (Variation ID: 555199). For these reasons, this variant has been classified as Pathogenic. |