ClinVar Miner

Submissions for variant NM_002087.3(GRN):c.898C>T (p.Gln300Ter) (rs1555611253)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000517994 SCV000613583 pathogenic not provided 2016-08-17 criteria provided, single submitter clinical testing
Invitae RCV001218285 SCV001390159 pathogenic Grn-related frontotemporal lobar degeneration with Tdp43 inclusions; Ceroid lipofuscinosis, neuronal, 11 2019-06-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln300*) 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 several individuals affected with behavioral variant frontotemporal dementia or primary progressive aphasia (PMID: 18234697, 27311648, 27082848, 21482928, 19884572). ClinVar contains an entry for this variant (Variation ID: 447479). 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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