ClinVar Miner

Submissions for variant NM_022041.4(GAN):c.633+1G>A

dbSNP: rs1597401738
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 RCV001095725 SCV001251564 likely pathogenic Giant axonal neuropathy 1 2020-02-19 criteria provided, single submitter clinical testing The GAN c.633+1G>A variant occurs in a canonical splice site (donor) and is therefore predicted to disrupt or distort the normal gene product. A literature search was performed for the gene and cDNA change. No publications were found based on this search. Another variant that disrupts the same canonical splice site has been reported in a compound heterozygous state in one individual with giant axonal neuropathy (Koop et al. 2007). The c.633+1G>A variant is not found in the Genome Aggregation Database in a region of good sequencing coverage, indicating it is rare. Based on the predicted alteration of the gene product, the variant's rarity, and the identification of a similar variant in an affected individual, the c.633+1G>A variant is classified as likely pathogenic for giant axonal neuropathy.

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.