Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002746484 | SCV003010687 | uncertain significance | Adenylosuccinate lyase deficiency | 2021-12-06 | criteria provided, single submitter | clinical testing | This variant occurs in a non-coding region of the ADSL gene. It does not change the encoded amino acid sequence of the ADSL protein. This variant is present in population databases (rs183190870, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with ADSL-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Developmental and Behavioral Pediatrics, |
RCV002746484 | SCV003838958 | likely pathogenic | Adenylosuccinate lyase deficiency | no assertion criteria provided | clinical testing |