Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000668876 | SCV000793549 | likely pathogenic | Argininosuccinate lyase deficiency | 2017-08-18 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000668876 | SCV001233498 | pathogenic | Argininosuccinate lyase deficiency | 2023-11-15 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Glu98*) 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 present in population databases (rs770375565, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with argininosuccinate lyase deficiency (PMID: 24166829). ClinVar contains an entry for this variant (Variation ID: 553428). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic. |