ClinVar Miner

Submissions for variant NM_080632.3(UPF3B):c.1265A>G (p.Lys422Arg)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002447949 SCV002679926 uncertain significance Inborn genetic diseases 2024-05-29 criteria provided, single submitter clinical testing The c.1265A>G (p.K422R) alteration is located in exon 10 (coding exon 10) of the UPF3B gene. This alteration results from a A to G substitution at nucleotide position 1265, causing the lysine (K) at amino acid position 422 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003624481 SCV004511725 uncertain significance Syndromic X-linked intellectual disability 14 2023-12-10 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 422 of the UPF3B protein (p.Lys422Arg). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with UPF3B-related conditions. ClinVar contains an entry for this variant (Variation ID: 1763970). 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 with a negative predictive value of 80%. 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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