ClinVar Miner

Submissions for variant NM_022167.4(XYLT2):c.1736del (p.Pro579fs)

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
Molecular Genetics and NGS Laboratory, Hospital Fundacion Valle Del Lili RCV004703376 SCV005200495 likely pathogenic Spondylo-ocular syndrome 2024-09-01 criteria provided, single submitter clinical testing Female patient, daughter of consanguineous parents. Patient with congenital cataracts, nystagmus, left renal hydronephrosis, learning difficulties, two fractures in left femur, one fracture in right femur and another fracture in spine. On physical examination, short stature, short neck, shield chest and hyperlordosis. Molecular study by NGS with homozygous variant in XYLT2 gene, both parents heterozygous.

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.