ClinVar Miner

Submissions for variant NM_130839.5(UBE3A):c.1871_1872del (p.Cys624fs)

dbSNP: rs864309508
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000622670 SCV000740728 pathogenic Inborn genetic diseases 2014-09-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003401095 SCV004112796 pathogenic UBE3A-related disorder 2023-03-08 criteria provided, single submitter clinical testing The UBE3A c.1811_1812delGT variant is predicted to result in a frameshift and premature protein termination (p.Cys604Tyrfs*23). This variant has been reported as pathogenic in individuals with neurological and epilepsy phenotypes. In at least one study, the variant was reported to occur de novo (Table S3, Helbig et al. 2016. PubMed ID: 26795593; Ganapathy et al. 2019. PubMed ID: 31069529). Frameshift variants upstream and downstream of this position have also been reported as pathogenic in individuals with Angelman syndrome phenotypes (HGMD, Human Gene Mutation Database). To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Taken together, this variant is interpreted as pathogenic.
Clinical Molecular Genetics Laboratory, Johns Hopkins All Children's Hospital RCV000202543 SCV000257506 pathogenic Angelman syndrome 2008-05-16 no assertion criteria provided clinical testing

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