ClinVar Miner

Submissions for variant NM_003334.4(UBA1):c.1432G>T (p.Ala478Ser)

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
CeGaT Center for Human Genetics Tuebingen RCV003312767 SCV004010934 pathogenic not provided 2023-04-01 criteria provided, single submitter clinical testing UBA1: PM1, PM2, PS2:Moderate, PS4:Moderate, PP3, PP4
Invitae RCV003621696 SCV004503574 uncertain significance Infantile-onset X-linked spinal muscular atrophy 2023-03-22 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 478 of the UBA1 protein (p.Ala478Ser). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with UBA1-related conditions. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.

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.