ClinVar Miner

Submissions for variant NM_130839.5(UBE3A):c.1728G>A (p.Val576=)

gnomAD frequency: 0.00004  dbSNP: rs749731066
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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 RCV002519088 SCV003934935 likely benign Angelman syndrome 2023-06-16 reviewed by expert panel curation The allele frequency of the c.1668G>A p.Val556= variant in UBE3A (NM_130838.2) is 0.008% in the African/African American sub population in gnomAD, which is high enough to meet the BS1 criteria based on thresholds defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like conditions (BS1). The silent p.Val556= 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.1668G>A p.Val556= variant in UBE3A is classified as Likely Benign based on the ACMG/AMP criteria (BS1, BP4, BP7).
Eurofins Ntd Llc (ga) RCV000345041 SCV000332171 uncertain significance not provided 2015-06-12 criteria provided, single submitter clinical testing
GeneDx RCV000345041 SCV000969093 likely benign not provided 2018-05-23 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002519088 SCV003263261 likely benign Angelman syndrome 2025-01-30 criteria provided, single submitter clinical testing

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