ClinVar Miner

Submissions for variant NM_130839.5(UBE3A):c.2557_2560dup (p.Lys854fs)

dbSNP: rs587781229
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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 RCV000144305 SCV004297178 pathogenic Angelman syndrome 2022-11-18 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the UBE3A protein in which other variant(s) (p.Glu837Argfs*4) have been determined to be pathogenic (PMID: 11748306, 20034088). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 155982). This premature translational stop signal has been observed in individual(s) with clinical features of UBE3A-related conditions (PMID: 25212744). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Lys834Argfs*4) in the UBE3A gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 19 amino acid(s) of the UBE3A protein.
Baylor Genetics RCV000144305 SCV000172056 pathogenic Angelman syndrome 2014-02-14 no assertion criteria provided clinical testing

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