ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.7660T>A (p.Phe2554Ile)

gnomAD frequency: 0.00006  dbSNP: rs368269464
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000644827 SCV000766542 benign Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2023-08-10 criteria provided, single submitter clinical testing
Ambry Genetics RCV002388094 SCV002672073 uncertain significance Inborn genetic diseases 2022-03-28 criteria provided, single submitter clinical testing The p.F2554I variant (also known as c.7660T>A), located in coding exon 24 of the SETX gene, results from a T to A substitution at nucleotide position 7660. The phenylalanine at codon 2554 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Athena Diagnostics RCV003482289 SCV004230050 uncertain significance not provided 2023-07-17 criteria provided, single submitter clinical testing Available data are insufficient to determine the clinical significance of the variant at this time. The frequency of this variant in the general population is higher than would generally be expected for pathogenic variants in this gene (http://gnomad.broadinstitute.org). Computational tools predict that this variant is not damaging.
PreventionGenetics, part of Exact Sciences RCV004533375 SCV004121131 uncertain significance SETX-related disorder 2023-11-22 no assertion criteria provided clinical testing The SETX c.7660T>A variant is predicted to result in the amino acid substitution p.Phe2554Ile. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.028% of alleles in individuals of Latino descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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.