ClinVar Miner

Submissions for variant NM_002087.4(GRN):c.708+1G>C

dbSNP: rs63749817
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001384760 SCV001584405 pathogenic GRN-related frontotemporal lobar degeneration with Tdp43 inclusions; Neuronal ceroid lipofuscinosis 11 2020-04-06 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. 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). This variant has been observed in individual(s) with frontotemporal lobar dementia or primary progressive aphasia (PMID: 16950801, 27082848). This variant is also known as g.10679G>C, p.V200Gfs*18 in the literature. ClinVar contains an entry for this variant (Variation ID: 98149). This variant is present in population databases (rs63749817, ExAC 0.02%). This sequence change affects a donor splice site in intron 7 of the GRN gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product.
VIB Department of Molecular Genetics, University of Antwerp RCV000084452 SCV000116588 not provided not provided no assertion provided not provided

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