ClinVar Miner

Submissions for variant NM_080632.3(UPF3B):c.1255dup (p.Thr419fs)

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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 RCV002876806 SCV003236357 uncertain significance Syndromic X-linked intellectual disability 14 2023-11-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr419Asnfs*2) in the UPF3B gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 65 amino acid(s) of the UPF3B protein. 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: 2032196). 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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