ClinVar Miner

Submissions for variant NM_001366110.1(PAX4):c.515G>A (p.Arg172Gln)

gnomAD frequency: 0.00001  dbSNP: rs587780414
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000117892 SCV000152165 uncertain significance not provided 2013-11-04 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000374614 SCV000466606 uncertain significance Maturity onset diabetes mellitus in young 2016-06-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002490803 SCV002785511 uncertain significance Diabetes mellitus, ketosis-prone; Maturity-onset diabetes of the young type 9; Type 2 diabetes mellitus 2022-01-04 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000117892 SCV003468221 uncertain significance not provided 2023-11-02 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 164 of the PAX4 protein (p.Arg164Gln). This variant is present in population databases (rs587780414, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with PAX4-related conditions. ClinVar contains an entry for this variant (Variation ID: 129874). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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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