ClinVar Miner

Submissions for variant NM_080911.3(UNG):c.173C>T (p.Pro58Leu)

gnomAD frequency: 0.00006  dbSNP: rs371482568
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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 RCV001314932 SCV001505484 uncertain significance Hyper-IgM syndrome type 5 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 58 of the UNG protein (p.Pro58Leu). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and leucine. This variant is present in population databases (rs371482568, ExAC 0.008%). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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 RCV004034333 SCV003728690 uncertain significance not specified 2022-10-26 criteria provided, single submitter clinical testing The c.173C>T (p.P58L) alteration is located in exon 2 (coding exon 2) of the UNG gene. This alteration results from a C to T substitution at nucleotide position 173, causing the proline (P) at amino acid position 58 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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