ClinVar Miner

Submissions for variant NM_080911.3(UNG):c.392del (p.Pro131fs)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000013084 SCV003514080 pathogenic Hyper-IgM syndrome type 5 2022-10-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro131Hisfs*13) 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). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 12290). This variant is also known as 462C del. This premature translational stop signal has been observed in individual(s) with hyper IgM syndrome. (PMID: 12958596). This variant is present in population databases (rs778896112, gnomAD 0.005%).
OMIM RCV000013084 SCV000033330 pathogenic Hyper-IgM syndrome type 5 2003-10-01 no assertion criteria provided literature only

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