ClinVar Miner

Submissions for variant NM_138387.4(G6PC3):c.626G>A (p.Gly209Asp)

dbSNP: rs764056109
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001372546 SCV001569219 uncertain significance Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency 2021-08-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV004980406 SCV005596699 uncertain significance Inborn genetic diseases 2024-12-02 criteria provided, single submitter clinical testing The p.G209D variant (also known as c.626G>A), located in coding exon 5 of the G6PC3 gene, results from a G to A substitution at nucleotide position 626. The glycine at codon 209 is replaced by aspartic acid, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

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.