ClinVar Miner

Submissions for variant NM_000021.4(PSEN1):c.409G>A (p.Ala137Thr)

dbSNP: rs1566630884
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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 RCV000736260 SCV000864557 likely pathogenic Frontotemporal dementia 2017-02-01 criteria provided, single submitter research not on molgen, but in mutation hotspot. Not on exac, not on exome variant server. In silico predictions conflicting

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