ClinVar Miner

Submissions for variant NM_130838.3(UBE3A):c.1184_1193dup (p.Gly399fs) (rs886041603)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000386255 SCV000330298 pathogenic not provided 2016-03-14 criteria provided, single submitter clinical testing The c.1184_1193dup10 pathogenic variant in the UBE3A gene causes a frameshift starting with codon Glycine 399, changes this amino acid to a Lysine residue and creates a premature Stop codon at position 13 of the new reading frame, denoted p.G399KfsX13. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. Multiple other frameshift variants downstream of this position have been reported in the Human Gene Mutation Database in association with Angelman syndrome (Stenson et al., 2014).
GenomeConnect, ClinGen RCV000509135 SCV000606956 not provided Angelman syndrome no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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