ClinVar Miner

Submissions for variant NM_080911.3(UNG):c.490G>A (p.Gly164Arg)

dbSNP: rs745760429
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001329608 SCV001521097 uncertain significance Hyper-IgM syndrome type 5 2019-06-30 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001329608 SCV002130212 uncertain significance Hyper-IgM syndrome type 5 2021-06-24 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 164 of the UNG protein (p.Gly164Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is present in population databases (rs745760429, ExAC 0.009%). This variant has not been reported in the literature in individuals with UNG-related conditions. ClinVar contains an entry for this variant (Variation ID: 1028541). 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 C15"). 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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