Submissions for variant NM_002087.4(GRN):c.384T>C (p.Asp128=)

gnomAD frequency: 0.02616  dbSNP: rs25646

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000251569	SCV000308701	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000280623	SCV000403341	likely benign	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Athena Diagnostics Inc	RCV000084440	SCV000843038	benign	not provided	2017-08-25	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002311747	SCV000846012	benign	Inborn genetic diseases	2016-03-04	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Invitae	RCV001516285	SCV001724547	benign	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions; Neuronal ceroid lipofuscinosis 11	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000084440	SCV001888915	benign	not provided	2018-08-14	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV001516285	SCV002796590	benign	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions; Neuronal ceroid lipofuscinosis 11	2021-08-23	criteria provided, single submitter	clinical testing
VIB Department of Molecular Genetics, University of Antwerp	RCV000084440	SCV000116576	not provided	not provided		no assertion provided	not provided
Mayo Clinic Laboratories, Mayo Clinic	RCV000084440	SCV000801382	benign	not provided	2015-12-16	no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000251569	SCV001741217	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000251569	SCV001809588	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000251569	SCV001930295	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000251569	SCV001967226	benign	not specified		no assertion criteria provided	clinical testing