ClinVar Miner

Submissions for variant NM_002087.3(GRN):c.1414-2A>G (rs1555611412)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000516768 SCV000613573 pathogenic not provided 2017-03-15 criteria provided, single submitter clinical testing
Invitae RCV000650260 SCV000772100 pathogenic Frontotemporal dementia, ubiquitin-positive; Ceroid lipofuscinosis, neuronal, 11 2017-08-11 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 11 of the GRN gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported to segregate with frontotemporal dementia(FTD) in a single family and reported in an individual with FTD (PMID: 20142524, 21482928). Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in GRN are known to be pathogenic (PMID: 16862116, 16950801, 22608501). Experimental studies have shown that this splice acceptor change resulted in partial reduction in splice site (PMID: 20142524). For these reasons, this variant has been classified as Pathogenic.

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