ClinVar Miner

Submissions for variant NM_000181.4(GUSB):c.1244+1G>A

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
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001251384 SCV001426967 pathogenic Mucopolysaccharidosis type 7 2020-07-10 criteria provided, single submitter clinical testing Variant summary: GUSB c.1244+1G>A is located in a canonical splice-site and is predicted to affect mRNA splicing resulting in a significantly altered protein due to either exon skipping, shortening, or inclusion of intronic material. Several computational tools predict a significant impact on normal splicing: Four predict the variant abolishes a 5 splicing donor site. These predictions are supported by at least one publication (Vervoort_1997) which demonstrated that the variant resulted in skipping of exon 6 and 7 with or without skipping of exon 9. The variant allele was found at a frequency of 8e-06 in 251272 control chromosomes (gnomAD). c.1244+1G>A has been reported in the literature in at least one individual (homozygous) affected with Mucopolysaccharidosis Type VII (Sly Syndrome) (Vervoort_1997). These data indicate that the variant may be associated with disease. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as pathogenic.

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.