ClinVar Miner

Submissions for variant NM_080911.3(UNG):c.366_369del (p.Arg122fs)

dbSNP: rs757311287
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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 RCV001994580 SCV002234721 pathogenic Hyper-IgM syndrome type 5 2020-12-09 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with UNG-related conditions. This variant is present in population databases (rs757311287, ExAC 0.02%). This sequence change creates a premature translational stop signal (p.Arg122Serfs*21) 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).

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