ClinVar Miner

Submissions for variant NM_002087.3(GRN):c.1179G>A (p.Glu393=) (rs1567887777)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Human Genetics Group at Institute of Prion Diseases London,University College London RCV000736255 SCV000864552 likely pathogenic Frontotemporal dementia 2017-02-01 criteria provided, single submitter clinical testing This result is consistent with a diagnosis of GRN-related dementia. The c.1179G>A p.? variant has not been previously reported in the literature, though it is likely to be pathogenic. It occurs at a highly conserved splice site at an intron-exon boundary and is therefore predicted to affect GRN splicing. Analysis of affected family members would assist in the interpretation of this result.

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