ClinVar Miner

Submissions for variant NM_130839.5(UBE3A):c.373T>C (p.Leu125=)

gnomAD frequency: 0.02311  dbSNP: rs61734190
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Total submissions: 8
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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 RCV000144348 SCV002540704 benign Angelman syndrome 2022-06-30 reviewed by expert panel curation The allele frequency of the c.313T>C p.(Leu105=) variant in UBE3A (NM_130838.2) is 7.5% in African/African-American 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.313T>C p.(Leu105=) variant in UBE3A is classified as Benign based on the ACMG/AMP criteria (BA1).
Eurofins Ntd Llc (ga) RCV000082349 SCV000114312 benign not specified 2015-03-13 criteria provided, single submitter clinical testing
GeneDx RCV000082349 SCV000169706 benign not specified 2016-06-20 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 RCV000082349 SCV000195372 benign not specified 2013-02-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000144348 SCV000559150 benign Angelman syndrome 2024-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002311730 SCV000847017 benign Inborn genetic diseases 2016-03-16 criteria provided, single submitter clinical testing This alteration is classified as 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.
Breakthrough Genomics, Breakthrough Genomics RCV004714425 SCV005297386 benign not provided criteria provided, single submitter not provided
Baylor Genetics RCV000144348 SCV000188525 uncertain significance Angelman syndrome 2014-02-14 no assertion criteria provided clinical testing possible diagnosis of Angelman syndrome

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