ClinVar Miner

Submissions for variant NM_080632.3(UPF3B):c.1049G>A (p.Arg350Gln)

gnomAD frequency: 0.00002  dbSNP: rs185347914
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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 RCV001961799 SCV002248100 uncertain significance Syndromic X-linked intellectual disability 14 2023-09-08 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. 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: 1469888). This variant has not been reported in the literature in individuals affected with UPF3B-related conditions. This variant is present in population databases (rs185347914, gnomAD 0.02%), including at least one homozygous and/or hemizygous individual. This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 350 of the UPF3B protein (p.Arg350Gln).

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