Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000186696 | SCV000240262 | pathogenic | not provided | 2021-04-14 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Missense variants in nearby residues reported in the Human Gene Mutation Database (Stenson et al., 2014); Not observed at a significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 29655203, 12016589, 16839792) |
Fulgent Genetics, |
RCV000763485 | SCV000894270 | pathogenic | Adenylosuccinate lyase deficiency | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000763485 | SCV001522758 | pathogenic | Adenylosuccinate lyase deficiency | 2020-09-02 | criteria provided, single submitter | clinical testing | This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. |
Invitae | RCV000763485 | SCV002224008 | likely pathogenic | Adenylosuccinate lyase deficiency | 2023-06-26 | criteria provided, single submitter | clinical testing | In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt ADSL protein function. ClinVar contains an entry for this variant (Variation ID: 204801). This missense change has been observed in individual(s) with adenylosuccinate lyase deficiency (PMID: 12016589). This variant is present in population databases (rs777821034, gnomAD 0.003%). This sequence change replaces serine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 447 of the ADSL protein (p.Ser447Pro). |
Revvity Omics, |
RCV000763485 | SCV003820488 | uncertain significance | Adenylosuccinate lyase deficiency | 2023-08-01 | criteria provided, single submitter | clinical testing |