ClinVar Miner

Submissions for variant NM_080911.3(UNG):c.514C>G (p.Pro172Ala)

gnomAD frequency: 0.00018  dbSNP: rs143527092
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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 RCV001882920 SCV002138497 uncertain significance Hyper-IgM syndrome type 5 2022-08-19 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 172 of the UNG protein (p.Pro172Ala). This variant is present in population databases (rs143527092, gnomAD 0.07%). This variant has not been reported in the literature in individuals affected with UNG-related conditions. ClinVar contains an entry for this variant (Variation ID: 1373714). 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: "Tolerated"; 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 RCV004040602 SCV003936945 uncertain significance not specified 2023-05-31 criteria provided, single submitter clinical testing The c.514C>G (p.P172A) 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 514, causing the proline (P) at amino acid position 172 to be replaced by an alanine (A). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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