ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.1658C>T (p.Ser553Phe) (rs1589747116)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001002626 SCV001160609 uncertain significance not specified 2019-06-17 criteria provided, single submitter clinical testing The SETX c.1658C>T, p.Ser553Phe variant has been previously observed as a part of a complex insertion/deletion variant in a patient with distal and proximal muscle weakness and electrophysiology consistent with axonal polyneuropathy (Lassuthova 2016). This variant is absent from general population databases (Exome Variant Server, Genome Aggregation Database), indicating it is not a common polymorphism. The serine at position 553 is weakly conserved and computational analyses of the effects of the p.Ser553Phe variant on protein structure and function is deleterious (SIFT: damaging, PolyPhen-2: possibly damaging). Altogether, there is not enough evidence to classify the p.Ser553Phe variant with certainty.

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.