ClinVar Miner

Submissions for variant NM_130838.3(UBE3A):c.2489C>G (p.Ser830Ter) (rs587781228)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000144304 SCV000964233 pathogenic Angelman syndrome 2018-10-09 criteria provided, single submitter clinical testing 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. This variant is not present in population databases (ExAC no frequency). 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 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. For these reasons, this variant has been classified as Pathogenic.
Baylor Miraca Genetics Laboratories, RCV000144304 SCV000172055 pathogenic Angelman syndrome 2014-02-14 no assertion criteria provided clinical testing

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