ClinVar Miner

Submissions for variant NM_000512.5(GALNS):c.121-7C>G

dbSNP: rs1004936255
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV001172401 SCV001190357 uncertain significance Mucopolysaccharidosis, MPS-IV-A criteria provided, single submitter clinical testing A homozygous splice site variation in intron 1 of the GALNS gene was detected. The observed variant c.121-7C>G has not been reported in the 1000 genomes, gnomAD and ExAC databases. The in silico prediction of the variant is damaging by MutationTaster2. The reference codon is conserved across species. In summary, the variant meets our criteria to be classified as a variant of unknown significance.
Labcorp Genetics (formerly Invitae), Labcorp RCV001172401 SCV004284282 likely pathogenic Mucopolysaccharidosis, MPS-IV-A 2023-12-11 criteria provided, single submitter clinical testing This sequence change falls in intron 1 of the GALNS gene. It does not directly change the encoded amino acid sequence of the GALNS protein. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with Mucopolysaccharidosis type IVA (PMID: 35729508). ClinVar contains an entry for this variant (Variation ID: 916633). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely 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.