ClinVar Miner

Submissions for variant NM_000021.4(PSEN1):c.691G>A (p.Ala231Thr)

dbSNP: rs63749836
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000084352 SCV000614825 likely pathogenic not provided 2022-01-11 criteria provided, single submitter clinical testing This variant was not reported in large, multi-ethnic, general populations (http://gnomad.broadinstitute.org). This variant has been identified in at least one individual with clinical features associated with this gene. Assessment of experimental evidence suggests this variant results in abnormal protein function. Studies show this variant results in an increase of amyloid-beta-42 to amyloid-beta-40 production (PMID: 10327206, 27930341).
Fulgent Genetics, Fulgent Genetics RCV000763347 SCV000894034 likely pathogenic Alzheimer disease 3; Frontotemporal dementia; Pick disease; Dilated cardiomyopathy 1U; Acne inversa, familial, 3 2018-10-31 criteria provided, single submitter clinical testing
VIB Department of Molecular Genetics, University of Antwerp RCV000084352 SCV000116488 not provided not provided no assertion provided not provided

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