ClinVar Miner

Submissions for variant NM_002087.4(GRN):c.675_676del (p.Ser226fs)

dbSNP: rs63751085
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000084584 SCV000613580 pathogenic not provided 2021-12-30 criteria provided, single submitter clinical testing This variant is expected to result in the loss of a functional protein. This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). This variant has been identified in multiple unrelated individuals with clinical features associated with this gene.
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV000995782 SCV001150129 pathogenic GRN-related frontotemporal lobar degeneration with Tdp43 inclusions 2018-02-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001064002 SCV001228874 pathogenic GRN-related frontotemporal lobar degeneration with Tdp43 inclusions; Neuronal ceroid lipofuscinosis 11 2024-03-23 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. Loss-of-function variants in GRN are known to be pathogenic (PMID: 16862116, 16950801, 22608501). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individuals with frontotemporal dementia (PMID: 16950801, 17698705, 20142524, 21482928, 26791154). ClinVar contains an entry for this variant (Variation ID: 98246). For these reasons, this variant has been classified as Pathogenic.
CeGaT Center for Human Genetics Tuebingen RCV000084584 SCV001250431 pathogenic not provided 2024-10-01 criteria provided, single submitter clinical testing GRN: PVS1, PM2, PS4:Moderate
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV000084584 SCV001480093 pathogenic not provided 2021-02-01 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

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