ClinVar Miner

Submissions for variant NM_002087.3(GRN):c.675_676del (p.Ser226fs) (rs63751085)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000084584 SCV000613580 pathogenic not provided 2016-08-26 criteria provided, single submitter clinical testing
Institute of Human Genetics,Klinikum rechts der Isar RCV000995782 SCV001150129 pathogenic Grn-related frontotemporal lobar degeneration with Tdp43 inclusions 2018-02-08 criteria provided, single submitter clinical testing
Invitae RCV001064002 SCV001228874 pathogenic Grn-related frontotemporal lobar degeneration with Tdp43 inclusions; Ceroid lipofuscinosis, neuronal, 11 2019-05-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser226Trpfs*28) in the GRN gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals affected with frontotemporal dementia (PMID: 16950801, 17698705, 20142524, 21482928) and primary progressive aphasia (PMID: 26791154). ClinVar contains an entry for this variant (Variation ID: 98246). Loss-of-function variants in GRN are known to be pathogenic (PMID: 16862116, 16950801, 22608501). For these reasons, this variant has been classified as Pathogenic.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000084584 SCV001250431 pathogenic not provided 2017-05-01 criteria provided, single submitter clinical testing
OMIM RCV000017391 SCV000037663 pathogenic Primary progressive aphasia 2007-09-11 no assertion criteria provided literature only
VIB Department of Molecular Genetics, University of Antwerp RCV000084584 SCV000116720 not provided not provided no assertion provided not provided

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.