Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV000147875 | SCV002540708 | uncertain significance | Angelman syndrome | 2022-06-30 | reviewed by expert panel | curation | The c.1805A>G p.(Asn602Ser) variant in UBE3A (NM_130838.2) is absent from gnomAD (PM2_supporting). The p.(Asn602Ser) variant has been observed in at least 2 individuals with a neurodevelopmental phenotype consistent with UBE3A-related disease (ClinVar SCV000195356.1, SCV000741231.2) (PS4_supporting), where it has been reported as a de novo occurrence (biological parentage unconfirmed) in 1 of these individuals (ClinVar SCV000741231.2) (PM6). Computational prediction analysis tools are inconclusive for this variant. In summary, the c.1805A>G p.(Asn602Ser) variant in UBE3A is classified as a Variant of Uncertain Significance based on the ACMG/AMP criteria (PM6_moderate, PS4_supporting, PM2_supporting). |
Genetic Services Laboratory, |
RCV000147875 | SCV000195356 | uncertain significance | Angelman syndrome | 2013-02-08 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV000624655 | SCV000741231 | pathogenic | Inborn genetic diseases | 2016-02-12 | criteria provided, single submitter | clinical testing |