ClinVar Miner

Submissions for variant NM_003660.4(PPFIA3):c.2717C>T (p.Ser906Leu)

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
Institute of Human Genetics, Clinical Exome/Genome Diagnostics Group, University Hospital Bonn RCV003315464 SCV003035511 likely pathogenic Neurodevelopmental delay 2023-01-19 criteria provided, single submitter clinical testing
GeneDx RCV004798009 SCV005419689 pathogenic not provided 2024-05-22 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: 38181735, 37034625)
OMIM RCV005239511 SCV005882898 pathogenic PAUL-CHAO NEURODEVELOPMENTAL SYNDROME 2025-03-12 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.