ClinVar Miner

Submissions for variant NM_001690.4(ATP6V1A):c.80C>G (p.Pro27Arg)

dbSNP: rs1553709380
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
Ambry Genetics RCV001266663 SCV001444840 likely pathogenic Inborn genetic diseases 2018-08-16 criteria provided, single submitter clinical testing
GeneDx RCV003332217 SCV004040160 pathogenic not provided 2023-03-22 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: 35675510, 29668857, 32045939)
OMIM RCV000656506 SCV000778503 pathogenic Epileptic encephalopathy, infantile or early childhood, 3 2021-03-15 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.