ClinVar Miner

Submissions for variant NM_000021.4(PSEN1):c.698T>C (p.Met233Thr)

dbSNP: rs63751024
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
3billion RCV001808318 SCV002058532 likely pathogenic Alzheimer disease 3 2022-01-03 criteria provided, single submitter clinical testing The variant was co-segregated with Alzheimer disease, type 3 in multiple affected family members (PMID: 9172170, PP1_P). A different missense change at the same codon has been reported as pathogenic/likely pathogenic with strong evidence (ClinVar ID: VCV000021028, PMID:10533070,11524469,11684347,22475797,28350801, PM5_M). In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.97, 3CNET: 0.996, PP3_P). A missense variant is a common mechanism associated with Alzheimer disease (PP2_P). It is not observed in the gnomAD v2.1.1 dataset (PM2_M). Therefore, this variant is classified as likely pathogenic according to the recommendation of ACMG/AMP guideline.
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University RCV001808318 SCV003932786 pathogenic Alzheimer disease 3 2023-03-21 criteria provided, single submitter research This case has this variant as heterozygous
VIB Department of Molecular Genetics, University of Antwerp RCV000084355 SCV000116491 not provided not provided no assertion provided not provided

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