ClinVar Miner

Submissions for variant NM_000021.4(PSEN1):c.786G>C (p.Leu262Phe)

dbSNP: rs63750248
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000084367 SCV001145227 likely pathogenic not provided 2018-11-26 criteria provided, single submitter clinical testing Not found in the total gnomAD dataset, and the data is high quality (0/281164 chr). Found in at least one symptomatic patient. Predicted to have a damaging effect on the protein. Damaging to protein function(s) relevant to disease mechanism.
VIB Department of Molecular Genetics, University of Antwerp RCV000084367 SCV000116503 not provided not provided no assertion provided not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV000084367 SCV001808129 pathogenic not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000084367 SCV001964628 pathogenic not provided no assertion criteria provided clinical testing

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