ClinVar Miner

Submissions for variant NM_002087.4(GRN):c.709-2A>G

dbSNP: rs63750548
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000704513 SCV000833465 pathogenic GRN-related frontotemporal lobar degeneration with Tdp43 inclusions; Neuronal ceroid lipofuscinosis 11 2023-12-09 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 7 of the GRN gene. RNA analysis indicates that disruption of this splice site induces altered splicing and may result in an absent or disrupted protein product. This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individuals with frontotemporal dementia (PMID: 17202431, 17439980, 18183624). It has also been observed to segregate with disease in related individuals. This variant is also known as g.5913A>G and IVS6–2A>G. ClinVar contains an entry for this variant (Variation ID: 98150). Studies have shown that disruption of this splice site results in skipping of exon 8 and introduces a premature termination codon (PMID: 17439980, 18183624). The resulting mRNA is expected to undergo nonsense-mediated decay. For these reasons, this variant has been classified as Pathogenic.
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV000995784 SCV001150132 pathogenic GRN-related frontotemporal lobar degeneration with Tdp43 inclusions 2019-06-07 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV000084453 SCV001447475 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000084453 SCV005891679 pathogenic not provided 2025-02-01 criteria provided, single submitter clinical testing GRN: PVS1, PP1:Strong, PM2, PS4:Moderate, PS3:Supporting
OMIM RCV001824019 SCV000037662 pathogenic Primary progressive aphasia 2007-09-11 no assertion criteria provided literature only
OMIM RCV000995784 SCV000037664 pathogenic GRN-related frontotemporal lobar degeneration with Tdp43 inclusions 2008-04-01 no assertion criteria provided literature only
VIB Department of Molecular Genetics, University of Antwerp RCV000084453 SCV000116589 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.