ClinVar Miner

Submissions for variant NM_001020658.2(PUM1):c.7G>A (p.Val3Ile)

dbSNP: rs1187853515
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
Illumina Laboratory Services, Illumina RCV001797022 SCV002038549 uncertain significance Spinocerebellar ataxia 47 2021-05-19 criteria provided, single submitter clinical testing The PUM1 c.7G>A (p.Val3Ile) variant is a missense variant. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. This variant is not found in the Genome Aggregation Database (version 2.1.1 or version 3.1.1) despite its location in a region of good sequence coverage, so the variant is presumed to be rare. Based on the limited evidence, the p.Val3Ile variant is classified as a variant of uncertain significance for spinocerebellar ataxia 47.

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.