ClinVar Miner

Submissions for variant NM_130839.5(UBE3A):c.1802CTT[1] (p.Ser602del)

dbSNP: rs587781234
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Rett and Angelman-like Disorders Variant Curation Expert Panel 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, University of Chicago 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

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