ClinVar Miner

Submissions for variant NM_000021.4(PSEN1):c.854C>T (p.Ala285Val)

dbSNP: rs63751139
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001808319 SCV002056151 pathogenic Early-onset autosomal dominant Alzheimer disease 2022-01-12 criteria provided, single submitter clinical testing gnomAD and other open variant DBs: absent; pathogenic by different prediction tools (SIFT, PolyPhen, CADD); HGMD: DM; a minimum of 4 single descriptions with EOAD (AD3) with AaO of about 50 years - PMID:7651536, 9007097, 9109915, 32589559; located within cytoplasmatic loop between transmembran region TM6 and TM7 - PMID:26756738
VIB Department of Molecular Genetics, University of Antwerp RCV000084386 SCV000116522 not provided not provided no assertion provided not provided

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