ClinVar Miner

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

dbSNP: rs1555399937
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Total submissions: 3
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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 2020-01-25 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in UBE3A are known to be pathogenic (PMID: 25212744). 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). This variant is not present in population databases (ExAC no frequency). 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.
3billion RCV001044278 SCV002059048 pathogenic Angelman syndrome 2022-01-03 criteria provided, single submitter clinical testing Stop-gained (nonsense): predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant (PVS1_VS). It is not observed in the gnomAD v2.1.1 dataset (PM2_M). The variant has been reported at least twice as pathogenic/likely pathogenic with clinical assertions and evidence for the classification (ClinVar ID: VCV000446052, PMID:9585605). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.

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