ClinVar Miner

Submissions for variant NM_024598.4(USB1):c.452T>A (p.Phe151Tyr)

gnomAD frequency: 0.00006  dbSNP: rs375204675
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001343627 SCV001537625 uncertain significance not provided 2022-10-13 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine, which is neutral and non-polar, with tyrosine, which is neutral and polar, at codon 151 of the USB1 protein (p.Phe151Tyr). This variant is present in population databases (rs375204675, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with USB1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1040045). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Not Available"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Not Available"). 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 RCV004036398 SCV004977301 uncertain significance Inborn genetic diseases 2024-12-03 criteria provided, single submitter clinical testing The c.452T>A (p.F151Y) alteration is located in exon 4 (coding exon 4) of the USB1 gene. This alteration results from a T to A substitution at nucleotide position 452, causing the phenylalanine (F) at amino acid position 151 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration 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.