ClinVar Miner

Submissions for variant NM_001002295.2(GATA3):c.708del (p.Ser237fs)

dbSNP: rs771019738
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000988325 SCV001137994 pathogenic Hypoparathyroidism, deafness, renal disease syndrome 2019-05-28 criteria provided, single submitter clinical testing
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital RCV002508791 SCV002818231 pathogenic not provided 2022-12-17 criteria provided, single submitter clinical testing
Invitae RCV002508791 SCV003441478 pathogenic not provided 2022-01-21 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 802559). This variant is also known as a deletion at codon 236. This premature translational stop signal has been observed in individual(s) with hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome (PMID: 17210674, 26282285). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change creates a premature translational stop signal (p.Ser237Alafs*29) in the GATA3 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GATA3 are known to be pathogenic (PMID: 14985365, 21242646).

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.