ClinVar Miner

Submissions for variant NM_002087.3(GRN):c.1446C>A (p.Cys482Ter) (rs1567888461)

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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 RCV000736252 SCV000864549 pathogenic Frontotemporal dementia 2017-02-01 criteria provided, single submitter clinical testing This result confirms the diagnosis of a GRN-related dementia. This substitution in granulin exon 12 causes a premature STOP codon. Although this specific sequence change has not been previously reported, several pathogenic nonsense and frameshift mutations in GRN causing similar protein effects have been described in the literature1.

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