Submissions for variant NM_002087.4(GRN):c.359C>A (p.Ser120Tyr)

gnomAD frequency: 0.00076  dbSNP: rs63750043

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001086038	SCV000652428	likely benign	GRN-related frontotemporal lobar degeneration with Tdp43 inclusions; Neuronal ceroid lipofuscinosis 11	2024-01-22	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000084437	SCV000843037	benign	not provided	2017-10-09	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000084437	SCV001151344	likely benign	not provided	2024-01-01	criteria provided, single submitter	clinical testing	GRN: BP4, BS2
Illumina Laboratory Services, Illumina	RCV001125933	SCV001285071	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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
GeneDx	RCV000084437	SCV001785314	likely benign	not provided	2020-06-29	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 31996268, 32507413, 18328591, 29956270, 27997711, 22781549, 20020531, 26075876, 27884173, 17371905, 18245784, 19632744)
Ambry Genetics	RCV002453414	SCV002615354	likely benign	Inborn genetic diseases	2019-04-15	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
Breakthrough Genomics, Breakthrough Genomics	RCV000084437	SCV005212868	likely benign	not provided		criteria provided, single submitter	not provided
VIB Department of Molecular Genetics, University of Antwerp	RCV000084437	SCV000116573	not provided	not provided		no assertion provided	not provided
Mayo Clinic Laboratories, Mayo Clinic	RCV000084437	SCV000801381	uncertain significance	not provided	2017-11-03	no assertion criteria provided	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000084437	SCV001744326	uncertain significance	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000084437	SCV001968631	uncertain significance	not provided		no assertion criteria provided	clinical testing