ClinVar Miner

Submissions for variant NM_080632.3(UPF3B):c.1075A>G (p.Ile359Val)

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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 RCV002785342 SCV003025342 uncertain significance Syndromic X-linked intellectual disability 14 2022-06-26 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The valine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect 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 (rs766422375, gnomAD 0.001%). This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 359 of the UPF3B protein (p.Ile359Val).

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