Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV000983370 | SCV003934944 | uncertain significance | Angelman syndrome | 2023-06-16 | reviewed by expert panel | curation | The c.1560C>T p.Ile520= variant in UBE3A (NM_130838.2) is absent from gnomAD (PM2_Supporting). The silent p.Ile520= variant is not predicted to affect splicing using multiple computational tools and does not affect a highly conserved nucleotide (BP4, BP7). In summary, the c.1560C>T p.Ile520= variant in UBE3A is classified as a Variant of Uncertain Significance based on the ACMG/AMP criteria (PM2_Supporting, BP4, BP7). |
Gene |
RCV000437526 | SCV000532941 | likely benign | not specified | 2016-10-21 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Genetic Services Laboratory, |
RCV000437526 | SCV000597816 | uncertain significance | not specified | 2017-03-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000983370 | SCV001131391 | likely benign | Angelman syndrome | 2023-10-03 | criteria provided, single submitter | clinical testing |