ClinVar Miner

Submissions for variant NM_080911.3(UNG):c.631C>A (p.Leu211Ile)

dbSNP: rs2042193445
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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 RCV001236044 SCV001408756 uncertain significance Hyper-IgM syndrome type 5 2019-10-25 criteria provided, single submitter clinical testing This sequence change replaces leucine with isoleucine at codon 211 of the UNG protein (p.Leu211Ile). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and isoleucine. This variant is not present in population databases (ExAC no frequency). 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 missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with UNG-related conditions.

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