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

Total submissions: 6

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