ClinVar Miner

Submissions for variant NM_130839.5(UBE3A):c.1404A>G (p.Thr468=)

gnomAD frequency: 0.00054  dbSNP: rs150331504
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Total submissions: 7
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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 RCV000144353 SCV001711967 benign Angelman syndrome 2021-03-26 reviewed by expert panel curation The allele frequency of the p.Thr448= variant in UBE3A is 1.9% in the East Asian 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). The silent p.Thr448= variant is not predicted to affect splicing using multiple computational tools and does not affect a highly conserved nucleotide (BP7). In summary, the p.Thr448= variant in UBE3A is classified as benign based on the ACMG/AMP criteria (BA1, BP7).
GeneDx RCV000177396 SCV000169713 benign not specified 2016-06-14 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 RCV000177396 SCV000195340 benign not specified 2015-08-10 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000177396 SCV000229248 benign not specified 2016-01-07 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000144353 SCV000291315 benign Angelman syndrome 2024-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002312891 SCV000848955 benign Inborn genetic diseases 2016-11-09 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.
Baylor Genetics RCV000144353 SCV000188530 uncertain significance Angelman syndrome 2014-02-14 no assertion criteria provided clinical testing possible diagnosis of Angelman syndrome

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