ClinVar Miner

Submissions for variant NM_130839.5(UBE3A):c.2255T>C (p.Ile752Thr)

gnomAD frequency: 0.00001  dbSNP: rs1312971608
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Diagnostic Laboratory, Strasbourg University Hospital RCV001260797 SCV001437890 likely benign Intellectual disability 2020-09-10 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003509663 SCV004292866 uncertain significance Angelman syndrome 2023-11-03 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 732 of the UBE3A protein (p.Ile732Thr). This variant is not present in population databases (gnomAD no frequency). 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: 981393). 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) performed at Invitae indicates that this missense variant is expected to disrupt UBE3A protein function with a positive predictive value of 95%. 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.

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