ClinVar Miner

Submissions for variant NM_002087.3(GRN):c.560del (p.Leu187fs) (rs1567886478)

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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 RCV000736254 SCV000864551 pathogenic Frontotemporal dementia 2017-02-01 criteria provided, single submitter clinical testing This result supports the diagnosis of a GRN-related dementia. This 1-bp deletion in granulin exon 6 causes a frameshift and a premature stop 69 codons downstream. Although this specific sequence change has not been previously reported, several pathogenic frameshift mutations in GRN have been previously described in the literature

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