ClinVar Miner

Submissions for variant NM_080911.3(UNG):c.366A>C (p.Arg122Ser)

gnomAD frequency: 0.00002  dbSNP: rs200273184
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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 RCV000807482 SCV000947535 uncertain significance Hyper-IgM syndrome type 5 2021-09-02 criteria provided, single submitter clinical testing This sequence change replaces arginine with serine at codon 122 of the UNG protein (p.Arg122Ser). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and serine. This variant is present in population databases (rs200273184, ExAC 0.01%). 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: "Possibly 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 RCV004028615 SCV003736698 uncertain significance not specified 2022-05-01 criteria provided, single submitter clinical testing The c.366A>C (p.R122S) 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 366, causing the arginine (R) at amino acid position 122 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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