ClinVar Miner

Submissions for variant NM_000178.4(GSS):c.1295_1296del (p.Tyr432fs)

dbSNP: rs777065530
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002012675 SCV002286148 uncertain significance Inherited glutathione synthetase deficiency 2022-03-29 criteria provided, single submitter clinical testing This sequence change results in a frameshift in the GSS gene (p.Tyr432Cysfs*62). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 43 amino acid(s) of the GSS protein and extend the protein by 18 additional amino acid residues. This variant is present in population databases (rs777065530, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with GSS-related conditions. 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 RCV002608094 SCV003578978 uncertain significance Inborn genetic diseases 2021-09-19 criteria provided, single submitter clinical testing Not expected to trigger nonsense-mediated mRNA decay Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV003491000 SCV004235226 uncertain significance not provided 2023-08-15 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.