ClinVar Miner

Submissions for variant NM_002087.4(GRN):c.1341C>T (p.His447=)

gnomAD frequency: 0.00008  dbSNP: rs63750775
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001086557 SCV001101457 likely benign GRN-related frontotemporal lobar degeneration with Tdp43 inclusions; Neuronal ceroid lipofuscinosis 11 2023-09-17 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001122277 SCV001280990 uncertain significance 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. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Ambry Genetics RCV002381408 SCV002694561 likely benign Inborn genetic diseases 2019-12-04 criteria provided, single submitter clinical testing This alteration is classified as likely 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.
PreventionGenetics, part of Exact Sciences RCV003945035 SCV004762738 likely benign GRN-related condition 2023-03-28 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
VIB Department of Molecular Genetics, University of Antwerp RCV000084484 SCV000116620 not provided not provided no assertion provided not provided

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