ClinVar Miner

Submissions for variant NM_130839.5(UBE3A):c.1865A>G (p.Asn622Ser)

dbSNP: rs587784521
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Total submissions: 3
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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 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, University of Chicago 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

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