ClinVar Miner

Submissions for variant NM_000021.4(PSEN1):c.869-3C>A

dbSNP: rs2140125016
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001875732 SCV002156524 uncertain significance Alzheimer disease 3; Frontotemporal dementia; Pick disease; Acne inversa, familial, 3 2021-10-20 criteria provided, single submitter clinical testing This sequence change falls in intron 8 of the PSEN1 gene. It does not directly change the encoded amino acid sequence of the PSEN1 protein. It affects a nucleotide within the consensus splice site. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with PSEN1-related conditions. Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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