ClinVar Miner

Submissions for variant NM_080911.3(UNG):c.802-8T>A

gnomAD frequency: 0.00002  dbSNP: rs771426933
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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 RCV001347963 SCV001542247 uncertain significance Hyper-IgM syndrome type 5 2022-07-05 criteria provided, single submitter clinical testing This variant is present in population databases (rs771426933, gnomAD 0.007%). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 1043802). This variant has not been reported in the literature in individuals affected with UNG-related conditions. This sequence change falls in intron 6 of the UNG gene. It does not directly change the encoded amino acid sequence of the UNG protein.

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