ClinVar Miner

Submissions for variant NM_000512.5(GALNS):c.187G>C (p.Ala63Pro)

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 RCV003318423 SCV004021939 pathogenic Mucopolysaccharidosis, MPS-IV-A 2023-07-27 criteria provided, single submitter clinical testing A heterozygous variation in exon 2 of the GALNS gene that results in the amino acid substitution of Proline for Alanine at codon 63 was detected. The observed variant c.187G>C (p.Ala63Pro) has not been reported in the 1000 genomes database. The in silico prediction of the variant is disease causing by PolyPhen-2, SIFT, DANN and MutationTaster. In summary, the variant meets our criteria to be classified as 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.