Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Clin |
RCV000144310 | SCV001712001 | likely pathogenic | Angelman syndrome | 2021-03-26 | reviewed by expert panel | curation | The p.Ser582del variant in UBE3A is absent from gnomAD (PM2_Supporting). The p.Ser582del variant in UBE3A has been reported in at least 2 de novo occurrences (biological parentage unconfirmed) in individuals with Angelman syndrome (PMID 25212744, internal database) (PM6_Strong). The p.Ser582del variant has been observed in at least 1 other individual with Angelman syndrome (PMID 25212744) (PS4_Supporting). The p.Ser582del variant in UBE3A has been reported in an individual with a clinical phenotype suggestive of Angelman syndrome (PMID 25212744) (PP4). In summary, the p.Ser582del variant in UBE3A is classified as likely pathogenic for Angelman syndrome based on the ACMG/AMP criteria (PM2_supporting, PM6_strong, PS4_supporting, PP4). |
Genetic Services Laboratory, |
RCV000144310 | SCV000195353 | pathogenic | Angelman syndrome | 2019-06-27 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000144310 | SCV001217346 | pathogenic | Angelman syndrome | 2019-11-20 | criteria provided, single submitter | clinical testing | Experimental studies and prediction algorithms are not available or were not evaluated for this variant, and the functional significance of the affected amino acid(s) is currently unknown. This variant has been observed to be de novo in individuals with clinical features of Angelman syndrome (PMID: 25212744, 25693842). ClinVar contains an entry for this variant (Variation ID: 155987). This variant is not present in population databases (ExAC no frequency). This variant, c.1745_1747del, results in the deletion of 1 amino acid(s) of the UBE3A protein (p.Ser582del), but otherwise preserves the integrity of the reading frame. For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV000144310 | SCV000172061 | pathogenic | Angelman syndrome | 2014-02-14 | no assertion criteria provided | clinical testing |