ClinVar Miner

Submissions for variant NM_130839.5(UBE3A):c.1620C>T (p.Ile540=)

dbSNP: rs1057523671
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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 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).
GeneDx 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, University of Chicago 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

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