ClinVar Miner

Submissions for variant NM_130839.5(UBE3A):c.1504C>T (p.Arg502Ter) (rs1555399937)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514203 SCV000611021 pathogenic not provided 2017-09-06 criteria provided, single submitter clinical testing
Invitae RCV001044278 SCV001208068 pathogenic Angelman syndrome 2020-01-07 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg482*) in the UBE3A gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals with clinical features of Angelman syndrome (PMID: 9585605, 25212744, Invitae). ClinVar contains an entry for this variant (Variation ID: 446052). Loss-of-function variants in UBE3A are known to be pathogenic (PMID: 25212744). For these reasons, this variant has been classified as Pathogenic.

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