Submissions for variant NM_002087.4(GRN):c.55C>T (p.Arg19Trp)

gnomAD frequency: 0.01303  dbSNP: rs63750723

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000246460	SCV000308703	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000576325	SCV000403337	benign	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000084422	SCV000610102	benign	not provided	2017-05-03	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000576325	SCV000677381	benign	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions	2017-06-20	criteria provided, single submitter	clinical testing
Invitae	RCV001079864	SCV000772104	benign	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions; Neuronal ceroid lipofuscinosis 11	2024-01-26	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002311746	SCV000846597	benign	Inborn genetic diseases	2016-05-09	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.
GeneDx	RCV000084422	SCV001851928	benign	not provided	2020-07-24	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 30530974)
VIB Department of Molecular Genetics, University of Antwerp	RCV000084422	SCV000116558	not provided	not provided		no assertion provided	not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000084422	SCV001807297	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000246460	SCV001974776	benign	not specified		no assertion criteria provided	clinical testing