ClinVar Miner

Submissions for variant NM_000512.5(GALNS):c.1286C>T (p.Thr429Ile)

gnomAD frequency: 0.00005  dbSNP: rs768180795
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
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV001806425 SCV002054013 uncertain significance Mucopolysaccharidosis, MPS-IV-A 2022-05-09 criteria provided, single submitter clinical testing
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV001806425 SCV002754469 uncertain significance Mucopolysaccharidosis, MPS-IV-A criteria provided, single submitter clinical testing A Hemozygous missense variation in exon 12 of the GALNS gene that results in the amino acid substitution of Isoleucine for threonine at codon 429 was detected. The observed variant c.14286C>T (p.Thr429Ile) has not been reported in the 1000 genomes and has MAF of 0.0008% in the gnomAD databases. The in silico prediction of the variant is probably damaging by SIFT and MutationTaster2. The reference codon is conserved across species. In summary, the variant meets our criteria to be classified as a variant of uncertain significance.

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.