ClinVar Miner

Submissions for variant NM_002087.4(GRN):c.138+1G>A (rs63749844)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001049316 SCV001213361 pathogenic Grn-related frontotemporal lobar degeneration with Tdp43 inclusions; Ceroid lipofuscinosis, neuronal, 11 2019-12-02 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 2 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 observed in individual(s) with frontotemporal dementia (PMID: 16950801, 22366795). ClinVar contains an entry for this variant (Variation ID: 98126). Experimental studies have shown that this variant disrupts mRNA splicing (PMID: 16950801). 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: 22608501). For these reasons, this variant has been classified as Pathogenic.
VIB Department of Molecular Genetics, University of Antwerp RCV000084428 SCV000116564 not provided not provided no assertion provided not provided

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