ClinVar Miner

Submissions for variant NM_002730.4(PRKACA):c.409G>A (p.Gly137Arg)

dbSNP: rs148280386
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion, Medical Genetics RCV001271119 SCV002318857 pathogenic Cardioacrofacial dysplasia 1 2022-03-22 criteria provided, single submitter clinical testing The variant has been previously reported as de novo in a similarly affected individual (PMID: 33058759). Functional studies provide strong evidence of the variant having a damaging effect on the gene or gene product (PMID: 33058759). A missense variant is a common mechanism. It is not observed in the gnomAD v2.1.1 dataset. Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV001271119 SCV002507149 likely pathogenic Cardioacrofacial dysplasia 1 2022-05-09 criteria provided, single submitter clinical testing
GeneDx RCV002509646 SCV002818851 pathogenic not provided 2022-07-08 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 33058759, 33875766)
OMIM RCV001271119 SCV001451963 pathogenic Cardioacrofacial dysplasia 1 2020-12-28 no assertion criteria provided literature only

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.