ClinVar Miner

Submissions for variant NM_080632.3(UPF3B):c.982G>A (p.Glu328Lys)

gnomAD frequency: 0.00001  dbSNP: rs376175156
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001770747 SCV001992781 uncertain significance not provided 2019-06-20 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV001770747 SCV002568268 uncertain significance not provided 2022-04-13 criteria provided, single submitter clinical testing PM2
Labcorp Genetics (formerly Invitae), Labcorp RCV002540283 SCV002996991 uncertain significance Syndromic X-linked intellectual disability 14 2023-03-14 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 328 of the UPF3B protein (p.Glu328Lys). 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. 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 not expected to disrupt UPF3B protein function. ClinVar contains an entry for this variant (Variation ID: 1306567). This variant has not been reported in the literature in individuals affected with UPF3B-related conditions. This variant is present in population databases (rs376175156, gnomAD 0.002%).

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