ClinVar Miner

Submissions for variant NM_000021.4(PSEN1):c.338+7A>G

dbSNP: rs1897878139
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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 RCV001326693 SCV001517735 likely pathogenic Alzheimer disease 3; Frontotemporal dementia; Pick disease; Acne inversa, familial, 3 2022-01-05 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This sequence change falls in intron 4 of the PSEN1 gene. It does not directly change the encoded amino acid sequence of the PSEN1 protein. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with early-onset Alzheimer disease (Invitae). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 1026266). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site.

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