ClinVar Miner

Submissions for variant NM_080911.3(UNG):c.162del (p.Gln55fs)

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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 RCV002974821 SCV003280338 pathogenic Hyper-IgM syndrome type 5 2023-11-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln55Argfs*12) in the UNG gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in UNG are known to be pathogenic (PMID: 12958596). This variant is present in population databases (rs759483250, gnomAD 0.07%). This variant has not been reported in the literature in individuals affected with UNG-related conditions. ClinVar contains an entry for this variant (Variation ID: 2068429). For these reasons, this variant has been classified as Pathogenic.

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