ClinVar Miner

Submissions for variant NM_002087.4(GRN):c.328C>T (p.Arg110Ter) (rs63750411)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000084436 SCV000779672 pathogenic not provided 2018-05-21 criteria provided, single submitter clinical testing The R110X variant in the GRN gene has been reported previously in individuals with autosomal dominant frontotemporal dementia (Van Deerlin et al., 2007; Cruchaga et al., 2012). In addition, the R110X variant has been reported in an individual with a clinical diagnosis of posterior cortical atrophy with visual deficits, apperceptive visual agnosia, and occipital cortical atrophy (Caroppo et al., 2015). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The R110X variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). We interpret R110X as a pathogenic variant.
Institute of Human Genetics,Klinikum rechts der Isar RCV000767861 SCV000897721 pathogenic Grn-related frontotemporal lobar degeneration with Tdp43 inclusions 2019-04-11 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV000084436 SCV001250430 pathogenic not provided 2016-08-01 criteria provided, single submitter clinical testing
VIB Department of Molecular Genetics, University of Antwerp RCV000084436 SCV000116572 not provided not provided no assertion provided not provided

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