ClinVar Miner

Submissions for variant NM_002087.4(GRN):c.299del (p.Pro100fs)

dbSNP: rs2048353899
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001389661 SCV001591106 pathogenic GRN-related frontotemporal lobar degeneration with Tdp43 inclusions; Neuronal ceroid lipofuscinosis 11 2020-08-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Pro100Hisfs*156) in the GRN gene. It is expected to result 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: 20142524). Loss-of-function variants in GRN are known to be pathogenic (PMID: 22608501). For these reasons, this variant has been classified as Pathogenic.

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