ClinVar Miner

Submissions for variant NM_000021.4(PSEN1):c.1306C>T (p.Pro436Ser)

dbSNP: rs63749925
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000084414 SCV002770888 likely pathogenic not provided 2021-11-29 criteria provided, single submitter clinical testing This variant has not been 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. Multiple studies demonstrate this variant results in an increase to the amyloid-beta-42/40 production ratio (PMID: 15056474, 20460383, 27930341, 30042426, 31235249).
VIB Department of Molecular Genetics, University of Antwerp RCV000084414 SCV000116550 not provided not provided no assertion provided not provided

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