ClinVar Miner

Submissions for variant NM_000637.5(GSR):c.698G>A (p.Arg233His)

dbSNP: rs750234827
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001286060 SCV001472580 uncertain significance Hemolytic anemia due to glutathione reductase deficiency 2020-01-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001871682 SCV002152198 uncertain significance not provided 2022-11-01 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 233 of the GSR protein (p.Arg233His). This variant is present in population databases (rs750234827, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with GSR-related conditions. ClinVar contains an entry for this variant (Variation ID: 993877). 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.
Mayo Clinic Laboratories, Mayo Clinic RCV001871682 SCV005409428 uncertain significance not provided 2024-03-07 criteria provided, single submitter clinical testing PM2_moderate

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