ClinVar Miner

Submissions for variant NM_080911.3(UNG):c.399A>G (p.Gln133=)

dbSNP: rs576044400
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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 RCV001891090 SCV002163438 uncertain significance Hyper-IgM syndrome type 5 2022-04-04 criteria provided, single submitter clinical testing This sequence change affects codon 133 of the UNG mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the UNG protein. This variant is present in population databases (rs576044400, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with UNG-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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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