ClinVar Miner

Submissions for variant NM_198334.3(GANAB):c.926G>A (p.Arg309His)

gnomAD frequency: 0.00008  dbSNP: rs144118755
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
GeneDx RCV001779706 SCV002015465 uncertain significance not provided 2022-09-08 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002489828 SCV002775078 uncertain significance Polycystic kidney disease 3 with or without polycystic liver disease 2021-07-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV002544235 SCV003728485 uncertain significance Inborn genetic diseases 2022-04-07 criteria provided, single submitter clinical testing The c.992G>A (p.R331H) alteration is located in exon 10 (coding exon 10) of the GANAB gene. This alteration results from a G to A substitution at nucleotide position 992, causing the arginine (R) at amino acid position 331 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration 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.