ClinVar Miner

Submissions for variant NM_024598.4(USB1):c.456C>G (p.Phe152Leu)

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
Ambry Genetics RCV005304197 SCV005959197 uncertain significance Inborn genetic diseases 2025-01-06 criteria provided, single submitter clinical testing The p.F152L variant (also known as c.456C>G), located in coding exon 4 of the USB1 gene, results from a C to G substitution at nucleotide position 456. The phenylalanine at codon 152 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this variant remains unclear.

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.