ClinVar Miner

Submissions for variant NM_080632.3(UPF3B):c.1048C>T (p.Arg350Trp)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002595682 SCV003498416 uncertain significance Syndromic X-linked intellectual disability 14 2022-10-16 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 350 of the UPF3B protein (p.Arg350Trp). 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) 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 UPF3B protein function. This variant has not been reported in the literature in individuals affected with UPF3B-related conditions. This variant is present in population databases (rs750307045, gnomAD 0.007%), including at least one homozygous and/or hemizygous individual.

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