ClinVar Miner

Submissions for variant NM_000021.4(PSEN1):c.1247T>C (p.Ile416Thr)

dbSNP: rs2140145565
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kosik Lab, Neuroscience Research Institute, University of California Santa Barbara RCV001810076 SCV001751540 pathogenic Alzheimer disease 3 2021-06-01 criteria provided, single submitter case-control Variant segregates with the illness in the family where it was identified. ACMG criteria classifies the variant as Pathogenic (PS3, PS4, PM1, PM2, PM5, PP1, PP2, PP4)

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