ClinVar Miner

Submissions for variant NM_000512.5(GALNS):c.235T>C (p.Cys79Arg)

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
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV001093713 SCV001190350 likely pathogenic Mucopolysaccharidosis, MPS-IV-A criteria provided, single submitter clinical testing A homozygous missense variation in exon 2 of the GALNS gene that results in the amino acid substitution of Arginine for Cysteine at codon 79 was detected. The observed variant c.235T>C (p.Cys79Arg) has not been reported in the 1000 genomes and ExAC databases. The in silico prediction of the variant is damaging by LRT and MutationTaster2. The reference codon is conserved across species. The allele frequency of the variant is <0.01% in gnomAD database. In summary, the variant meets our criteria to be 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.