ClinVar Miner

Submissions for variant NM_080916.3(DGUOK):c.176C>G (p.Thr59Arg)

dbSNP: rs144907403
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000677027 SCV000251315 uncertain significance not provided 2025-02-20 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Eurofins Ntd Llc (ga) RCV000677027 SCV000861311 uncertain significance not provided 2018-05-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000677027 SCV002260390 uncertain significance not provided 2022-05-04 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with arginine, which is basic and polar, at codon 59 of the DGUOK protein (p.Thr59Arg). This variant is present in population databases (rs144907403, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with DGUOK-related conditions. ClinVar contains an entry for this variant (Variation ID: 214277). 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.
Revvity Omics, Revvity RCV000677027 SCV003829071 uncertain significance not provided 2022-04-21 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000677027 SCV000802861 uncertain significance not provided 2016-03-14 no assertion criteria provided clinical testing

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