ClinVar Miner

Submissions for variant NM_001002295.2(GATA3):c.961T>A (p.Cys321Ser)

dbSNP: rs1832898282
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
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute RCV001089562 SCV001244772 pathogenic Hypoparathyroidism, deafness, renal disease syndrome 2017-09-25 criteria provided, single submitter clinical testing A heterozygous missense variant was identified, NM_001002295.1(GATA3):c.961T>A in exon 5 of the GATA3 gene.This substitution is predicted to create a major amino acid change from a cysteine to a serine at position 321, NP_001002295.1(GATA3):p.(Cys321Ser).The cysteine at this position has very high conservation (100 vertebrates, UCSC). In silico tools predict this variant to be deleterious (Polyphen, SIFT, CADD, Mutation Taster).This variant is not present in the gnomAD population database. A variant affecting the same amino acid has been previously reported in a patient with hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome (Ohta, M. et al. (2011).)It is located in the C-terminal zinc finger (ZnF2) DNA-binding domain that has four cysteine residues. Functional studies have shown that disrupting this cysteine causes loss of DNA-binding (Ohta, M. et al. (2011)). Parental testing has indicated the variant is due to a de novo event.Based on current information, this variant has been classified asPATHOGENIC.NB: The GATA3 variant has been reclassified to pathogenic due to de novo status.

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.