Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000144307 | SCV000934203 | pathogenic | Angelman syndrome | 2022-04-08 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the UBE3A protein in which other variant(s) (p.Glu837Argfs*4) have been determined to be pathogenic (PMID: 11748306, 20034088). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 155984). This premature translational stop signal has been observed in individual(s) with clinical features of Angelman syndrome (PMID: 25212744; Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Lys836Argfs*24) in the UBE3A gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 17 amino acid(s) of the UBE3A protein. |
| Gene |
RCV001008094 | SCV001167839 | likely pathogenic | not provided | 2020-04-07 | criteria provided, single submitter | clinical testing | Identified in two individuals with clinical suspicion for Angelman syndrome in published literature (Sadikovic et al., 2014), but additional clinical information and familial segregation information was not provided; Reported previously in the heterozygous state in a patient with a Rett-like phenotype (Iwama et al., 2019); Frameshift variant predicted to result in protein extension, as the last 17 amino acids are replaced with 23 different amino acids; Not observed in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 25212744, 30842224) |
| Institute of Human Genetics, |
RCV000144307 | SCV002549865 | pathogenic | Angelman syndrome | 2022-07-13 | criteria provided, single submitter | clinical testing | _x000D_ Criteria applied: PVS1_STR, PS4, PM1, PM2_SUP, PP4 |
| Baylor Genetics | RCV000144307 | SCV000172058 | pathogenic | Angelman syndrome | 2014-02-14 | no assertion criteria provided | clinical testing | |
| Biochemical Molecular Genetic Laboratory, |
RCV000144307 | SCV001469260 | pathogenic | Angelman syndrome | 2020-06-07 | no assertion criteria provided | clinical testing |