ClinVar Miner

Submissions for variant NM_000512.5(GALNS):c.1002+17C>T (rs78494153)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000079018 SCV000110887 benign not specified 2013-11-14 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000079018 SCV000917403 benign not specified 2017-10-30 criteria provided, single submitter clinical testing Variant summary: The GALNS c.1002+17C>T variant involves the alteration of a non-conserved intronic nucleotide and 5/5 splice prediction tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. This variant was found in 862/272430 (23 homozygotes) control chromosomes (gnomAD), predominantly observed in the African subpopulation at a frequency of 0.033904 (800/23596, 22 homozygotes). This frequency is about 17 times the estimated maximal expected allele frequency of a pathogenic GALNS variant (0.0020412), suggesting this is likely a benign polymorphism found primarily in the populations of African origin. In addition, a clinical diagnostic laboratory classified this variant as benign. Taken together, this variant is classified as benign.
Invitae RCV001520916 SCV001730131 benign Mucopolysaccharidosis, MPS-IV-A 2020-12-02 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV000675533 SCV000801224 likely benign not provided 2017-05-01 no assertion criteria provided clinical testing

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.