ClinVar Miner

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

gnomAD frequency: 0.00061  dbSNP: rs63750043
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001086038 SCV000652428 likely benign Grn-related frontotemporal lobar degeneration with Tdp43 inclusions; Neuronal ceroid lipofuscinosis 11 2021-12-15 criteria provided, single submitter clinical testing
Athena Diagnostics Inc 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 2022-07-01 criteria provided, single submitter clinical testing
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)
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

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