ClinVar Miner

Submissions for variant NM_130839.5(UBE3A):c.1338T>C (p.Phe446=)

gnomAD frequency: 0.00009  dbSNP: rs371154816
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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 RCV001078933 SCV003853558 benign Angelman syndrome 2022-12-08 reviewed by expert panel curation The allele frequency of the p.Phe426= variant in UBE3A (NM_130838.2) is 0.014% in European (non-Finnish) 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 p.Phe426= variant is not predicted to affect splicing using multiple computational tools and does not affect a highly conserved nucleotide (BP7). In summary, the p.Phe426= variant in UBE3A (NM_130838.2) is classified as Likely Benign based on the ACMG/AMP criteria (BS1, BP7).
Eurofins Ntd Llc (ga) RCV000724495 SCV000229250 uncertain significance not provided 2015-02-19 criteria provided, single submitter clinical testing
GeneDx RCV000724495 SCV000515222 likely benign not provided 2020-04-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001078933 SCV001009840 likely benign Angelman syndrome 2024-01-19 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000724495 SCV001748437 likely benign not provided 2021-06-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV002372091 SCV002686991 likely benign Inborn genetic diseases 2020-03-12 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.

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