ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.8C>T (p.Thr3Ile)

dbSNP: rs28941475
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000414273 SCV000491150 likely pathogenic not provided 2016-08-02 criteria provided, single submitter clinical testing The T3I variant in the SETX gene has been reported previously in multiple families in association with hereditary motor neuropathies (Chen et al., 2004; Arning et al., 2013; Drew et al., 2015). The T3I variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The T3I variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. The T3I variant is a strong candidate for a pathogenic variant.
CeGaT Center for Human Genetics Tuebingen RCV000414273 SCV005074585 likely pathogenic not provided 2024-06-01 criteria provided, single submitter clinical testing SETX: PP1:Strong, PM2, PS4:Moderate
OMIM RCV000002380 SCV000022538 pathogenic Amyotrophic lateral sclerosis type 4 2004-06-01 no assertion criteria provided literature only
Northcott Neuroscience Laboratory, ANZAC Research Institute RCV000002380 SCV000188713 pathogenic Amyotrophic lateral sclerosis type 4 no assertion criteria provided not provided Converted during submission to Pathogenic.
Inherited Neuropathy Consortium RCV000789614 SCV000928979 uncertain significance Distal spinal muscular atrophy no assertion criteria provided literature only
Inherited Neuropathy Consortium Ii, University Of Miami RCV000002380 SCV004011926 uncertain significance Amyotrophic lateral sclerosis type 4 2016-01-06 no assertion criteria provided literature only

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.