ClinVar Miner

Submissions for variant NM_002087.4(GRN):c.502_503insT (p.Gly168fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Concord Molecular Medicine Laboratory, Concord Repatriation General Hospital RCV002512431 SCV002820074 likely pathogenic GRN-related frontotemporal lobar degeneration with Tdp43 inclusions 2023-01-16 criteria provided, single submitter clinical testing This single nucleotide insertion has been detected in a patient with primary progressive aphasia and weakness. MRI brain was consistent with frontotemporal dementia, and EMG was consistent with motor neuron disease. This insertion has not been observed in control population database (gnomAD). The insertion results in a premature stop codon, p.(Gly168Valfs*30) that is predicted to be subject to nonsense mediated decay. Haploinsufficiency of GRN is a well established mechanism of disease for autosomal dominant frontotemporal lobar degeneration with ubiquitin-positive inclusions (OMIM#607485). The current evidence allows a classification of likely pathogenic (ACMG criteria: PVS1, PM2_supporting).

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