ClinVar Miner

Submissions for variant NM_130839.5(UBE3A):c.618A>T (p.Ala206=)

gnomAD frequency: 0.00121  dbSNP: rs143484751
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Total submissions: 6
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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 RCV000144336 SCV002540702 benign Angelman syndrome 2022-06-30 reviewed by expert panel curation The allele frequency of the c.558A>T p.(Ala186=) variant in UBE3A (NM_130838.2) is 0.047% in the European (non-Finnish) sub population in gnomAD, which is high enough to be classified as benign based on thresholds defined by the ClinGen Rett/Angelman-like Expert Panel for Rett/AS-like conditions (BA1). In summary, the c.558A>T p.(Ala186=) variant in UBE3A is classified as Benign based on the ACMG/AMP criteria (BA1).
GeneDx RCV000126214 SCV000169709 likely benign not specified 2017-10-19 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 RCV000144336 SCV000630043 benign Angelman syndrome 2024-01-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000858785 SCV001149366 likely benign not provided 2024-07-01 criteria provided, single submitter clinical testing UBE3A: BP4, BP7
Ambry Genetics RCV002345433 SCV002649139 likely benign Inborn genetic diseases 2018-05-18 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Baylor Genetics RCV000144336 SCV000188513 uncertain significance Angelman syndrome 2014-02-14 no assertion criteria provided clinical testing possible diagnosis of Angelman syndrome

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