ClinVar Miner

Submissions for variant NM_002087.4(GRN):c.910_911dup (p.Trp304fs)

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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 RCV002578950 SCV003490274 pathogenic GRN-related frontotemporal lobar degeneration with Tdp43 inclusions; Neuronal ceroid lipofuscinosis 11 2023-08-04 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 2175081). This premature translational stop signal has been observed in individual(s) with frontotemporal dementia (PMID: 31914217). This variant is present in population databases (rs750312986, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Trp304Cysfs*58) in the GRN gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GRN are known to be pathogenic (PMID: 16862116, 16950801, 22608501). For these reasons, this variant has been classified as Pathogenic.

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