ClinVar Miner

Submissions for variant NM_080911.3(UNG):c.487C>G (p.His163Asp)

gnomAD frequency: 0.00001  dbSNP: rs1188727621
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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 RCV001297755 SCV001486786 uncertain significance Hyper-IgM syndrome type 5 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces histidine with aspartic acid at codon 163 of the UNG protein (p.His163Asp). The histidine residue is highly conserved and there is a moderate physicochemical difference between histidine and aspartic acid. This variant is not present in population databases (ExAC no frequency). 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: "Probably Damaging"; 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 RCV004036082 SCV004977949 uncertain significance not specified 2024-01-09 criteria provided, single submitter clinical testing The c.487C>G (p.H163D) alteration is located in exon 4 (coding exon 4) of the UNG gene. This alteration results from a C to G substitution at nucleotide position 487, causing the histidine (H) at amino acid position 163 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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