ClinVar Miner

Submissions for variant NM_130839.5(UBE3A):c.412A>G (p.Arg138Gly)

gnomAD frequency: 0.00002  dbSNP: rs587783100
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704063 SCV000190982 likely benign not provided 2019-05-17 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 22494076)
Invitae RCV001857494 SCV002197357 uncertain significance Angelman syndrome 2021-08-28 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available"). This variant has not been reported in the literature in individuals with UBE3A-related conditions. ClinVar contains an entry for this variant (Variation ID: 156623). This variant is present in population databases (rs587783100, ExAC 0.003%). This sequence change replaces arginine with glycine at codon 118 of the UBE3A protein (p.Arg118Gly). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and glycine.

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