ClinVar Miner

Submissions for variant NM_130839.5(UBE3A):c.926C>G (p.Ala309Gly)

dbSNP: rs1057524508
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000437771 SCV000535752 likely pathogenic not provided 2018-07-03 criteria provided, single submitter clinical testing The A289G variant in the UBE3A gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. However, a missense variant at the same residue (A289V) has been identified as apparently de novo in a patient previously tested at GeneDx, supporting the functional importance of this region of the protein. The A289G variant is not observed in large population cohorts (Lek et al., 2016). In-silico analyses, including protein predictors and evolutionary conservation, support a deleterious effect. However, the A289G variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. We interpret A289G as a likely pathogenic variant.

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