ClinVar Miner

Submissions for variant NM_130839.5(UBE3A):c.2549C>G (p.Ser850Ter)

dbSNP: rs587781228
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000144304 SCV000964233 pathogenic Angelman syndrome 2018-10-06 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. This variant disrupts the C-terminus of the UBE3A protein. Other variants that disrupt this region (p.Lys836Argfs*4, p.Glu837Argfs*4, p.Lys836Asnfs*7, p.Leu835_Lys836del) have been observed in affected individuals (PMID: 9887341, 11748306, 26993267, 24796722). This suggests that this may be a clinically significant region of the protein. This variant has been observed in individuals affected with Angelman syndrome (PMID: 25212744, Invitae). ClinVar contains an entry for this variant (Variation ID: 155981). This sequence change results in a premature translational stop signal in the UBE3A gene (p.Ser830*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 23 amino acids of the UBE3A protein.
Baylor Genetics RCV000144304 SCV000172055 pathogenic Angelman syndrome 2014-02-14 no assertion criteria provided clinical testing

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