ClinVar Miner

Submissions for variant NM_130839.5(UBE3A):c.517del (p.Glu173fs)

dbSNP: rs1131691801
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000493743 SCV000582877 pathogenic not provided 2017-05-19 criteria provided, single submitter clinical testing The c.457delG variant in the UBE3A gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant causes a frameshift starting with codon Glutamic Acid 153, changes this amino acid to a Lysine residue, and creates a premature Stop codon at position 153 of the new reading frame, denoted p.Glu153LysfsX3. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The c.457delG variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret c.457delG as a pathogenic variant.

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