ClinVar Miner

Submissions for variant NM_080911.3(UNG):c.399A>C (p.Gln133His)

gnomAD frequency: 0.00005  dbSNP: rs576044400
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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 RCV002004636 SCV002230397 uncertain significance Hyper-IgM syndrome type 5 2021-09-15 criteria provided, single submitter clinical testing This sequence change replaces glutamine with histidine at codon 133 of the UNG protein (p.Gln133His). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and histidine. This variant is present in population databases (rs576044400, ExAC 0.02%). This variant has not been reported in the literature in individuals affected with UNG-related conditions. 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: "Benign"; Align-GVGD: "Class C0"). 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.
Ambry Genetics RCV004043926 SCV003710860 uncertain significance not specified 2021-08-10 criteria provided, single submitter clinical testing The c.399A>C (p.Q133H) alteration is located in exon 3 (coding exon 3) of the UNG gene. This alteration results from a A to C substitution at nucleotide position 399, causing the glutamine (Q) at amino acid position 133 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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