Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001064875 | SCV001229806 | likely benign | Adenylosuccinate lyase deficiency | 2023-11-18 | criteria provided, single submitter | clinical testing | |
| New York Genome Center | RCV001064875 | SCV002099037 | uncertain significance | Adenylosuccinate lyase deficiency | 2021-03-05 | criteria provided, single submitter | clinical testing | The inherited c.1102-6C>G variant identified in the ADSL gene substitutes a Cytosine for Guanine at the -6 position of intron 10/12. This variant is found with low frequency in gnomAD(v3.1) (2 heterozygotes, 0 homozygotes; allele frequency: 1.32e-5) suggesting it is not a common benign variant in the populations represented in that database. SpliceAI does not predict an effect of this variant on splicing (score:0.00), however the Transcript Inferred Pathogenicity (TraP) score for this variant is 0.407, which is >99% score-percentile, suggesting it is probably damaging to splicing. This variant is reported as a Variant of Uncertain Significance in ClinVar (VarID:858890) and to our current knowledge has not been reported in affected individuals in the literature. Given the lack of compelling evidence for its pathogenicity, the inherited c.1102-6C>G variant identified in the ADSL gene is reported as a Variant of Uncertain Significance. |