ClinVar Miner

Submissions for variant NM_000512.5(GALNS):c.898+1G>A

gnomAD frequency: 0.00001  dbSNP: rs761850746
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000633461 SCV000754690 pathogenic Mucopolysaccharidosis, MPS-IV-A 2019-09-18 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in GALNS are known to be pathogenic (PMID: 12442278). This variant has been observed as homozygous or in combination with another GALNS pathogenic variant in individuals affected with mucopolysaccharidosis IVA (PMID: 9298823, 23876334). This variant is also known as IVS8+1G>A in the literature. ClinVar contains an entry for this variant (Variation ID: 528323). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This sequence change affects a donor splice site in intron 8 of the GALNS gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova RCV000633461 SCV001547826 pathogenic Mucopolysaccharidosis, MPS-IV-A 2021-02-01 criteria provided, single submitter curation Splicing variant in canonical site (PVS1_very strong); the prevalence of the variant in affected individuals is significantly increased compared with the prevalence in controls (PS4_moderate); very low frequency in gnomAD v2.1.1 (PM2_moderate)
Genome-Nilou Lab RCV000633461 SCV002045008 pathogenic Mucopolysaccharidosis, MPS-IV-A 2021-11-07 criteria provided, single submitter 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.