ClinVar Miner

Submissions for variant NM_000637.5(GSR):c.94G>T (p.Glu32Ter)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV003436841 SCV004164570 uncertain significance not provided 2022-10-01 criteria provided, single submitter clinical testing GSR: PVS1:Strong
Revvity Omics, Revvity RCV003492877 SCV004235224 uncertain significance Hemolytic anemia due to glutathione reductase deficiency 2023-03-30 criteria provided, single submitter clinical testing
Neuberg Centre For Genomic Medicine, NCGM RCV003492877 SCV005373673 likely pathogenic Hemolytic anemia due to glutathione reductase deficiency 2023-05-20 criteria provided, single submitter clinical testing The observed stop gained variant c.94G>T(p.Glu32Ter) in GSR gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.94G>T variant has 0.04% allele frequency in gnomAD Exomes. Computational evidence (Mutation Taster - Disease causing) predicts damaging effect on protein structure and function for this variant.This variant is predicted to cause loss of normal protein function through protein truncation. Loss of function variants have been previously reported to be disease causing (Kamerbeek NM, et al., 2007). For these reasons, this variant has been classified as Likely Pathogenic. In the absence of another reportable variant, the molecular diagnosis is not confirmed.

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