ClinVar Miner

Submissions for variant NM_000021.4(PSEN1):c.338T>C (p.Leu113Pro) (rs63751399)

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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 RCV000084292 SCV001145224 likely pathogenic not provided 2019-04-04 criteria provided, single submitter clinical testing Not found in the total gnomAD dataset, and the data is high quality (0/282660 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.
OMIM RCV000019775 SCV000040073 pathogenic Frontotemporal dementia 2000-11-28 no assertion criteria provided literature only
GeneReviews RCV000020084 SCV000040384 pathologic Alzheimer disease, type 3 2010-12-23 no assertion criteria provided curation Converted during submission to Pathogenic.
VIB Department of Molecular Genetics, University of Antwerp RCV000084292 SCV000116428 not provided not provided no assertion provided not provided

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