ClinVar Miner

Submissions for variant NM_002087.4(GRN):c.933+1G>A (rs63750707)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000697778 SCV000826407 likely pathogenic Grn-related frontotemporal lobar degeneration with Tdp43 inclusions; Ceroid lipofuscinosis, neuronal, 11 2019-10-28 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 9 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 an individual affected with frontotemporal dementia (PMID: 16862116). ClinVar contains an entry for this variant (Variation ID: 98163). 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). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
VIB Department of Molecular Genetics, University of Antwerp RCV000084466 SCV000116602 not provided not provided no assertion provided not provided

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