ClinVar Miner

Submissions for variant NM_000512.5(GALNS):c.320-1G>T

gnomAD frequency: 0.00001  dbSNP: rs1245504167
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
Laboratory of Diagnosis and Therapy of Lysosomal Disorders, University of Padova RCV001377627 SCV001547660 pathogenic Mucopolysaccharidosis, MPS-IV-A 2021-02-01 criteria provided, single submitter research Splicing variant in canonical site (PVS1_very strong); in vivo functional studies supportive of a damaging effect on the gene product (low to null enzymatic activity in homozygotes; PS3_supporting); 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)
Invitae RCV001377627 SCV001575009 pathogenic Mucopolysaccharidosis, MPS-IV-A 2023-10-17 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 3 of the GALNS gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site 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 is present in population databases (no rsID available, gnomAD 0.003%). Disruption of this splice site has been observed in individual(s) with mucopolysaccharidosis type IVA (PMID: 23876334, 34387910). ClinVar contains an entry for this variant (Variation ID: 1048189). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Revvity Omics, Revvity RCV001377627 SCV002024157 pathogenic Mucopolysaccharidosis, MPS-IV-A 2021-02-23 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001377627 SCV002045032 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.