ClinVar Miner

Submissions for variant NM_080911.3(UNG):c.685C>T (p.Arg229Ter)

gnomAD frequency: 0.00002  dbSNP: rs772214871
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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 RCV000701366 SCV000830166 pathogenic Hyper-IgM syndrome type 5 2019-03-06 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in UNG are known to be pathogenic (PMID: 12958596). This variant has not been reported in the literature in individuals with UNG-related disease. This variant is present in population databases (rs772214871, ExAC 0.01%). This sequence change creates a premature translational stop signal (p.Arg229*) in the UNG gene. It is expected to result in an absent or disrupted protein product.

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