ClinVar Miner

Submissions for variant NM_000516.7(GNAS):c.432+5G>A

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
Institute for Genomic Medicine, Nationwide Children's Hospital RCV004771379 SCV005380244 likely pathogenic Pseudohypoparathyroidism type I A 2024-10-23 criteria provided, single submitter research The c.432+5G>A variant was identified in a patient with short stature and her affected mother, in whom it arose de novo. It is absent from gnomADv4.1, All Of Us, and RGC-ME databases, making it extremely rare. Although it does not affect the splice donor site, this variant alters the conserved +5 base after exon 5 and is predicted to disrupt splicing by SpliceAI and Pangolin. RNA-Seq of patient blood demonstrated multiple splicing abnormalities (exon 5 skipping, intron 5 retention, and activation of cryptic splice donor sites). We interpret this variant as Likely 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.