ClinVar Miner

Submissions for variant NM_130839.5(UBE3A):c.1169A>G (p.Asn390Ser)

gnomAD frequency: 0.00004  dbSNP: rs147446244
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000503287 SCV000597818 uncertain significance not specified 2015-10-20 criteria provided, single submitter clinical testing
Invitae RCV001231001 SCV001403504 uncertain significance Angelman syndrome 2023-12-26 criteria provided, single submitter clinical testing This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 370 of the UBE3A protein (p.Asn370Ser). This variant is present in population databases (rs147446244, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with UBE3A-related conditions. ClinVar contains an entry for this variant (Variation ID: 437194). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on UBE3A protein function. 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.
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002252144 SCV002523646 uncertain significance See cases 2020-04-07 criteria provided, single submitter clinical testing ACMG classification criteria: PM2, BP4

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