ClinVar Miner

Submissions for variant NM_000430.4(PAFAH1B1):c.1002+1G>A (rs113994203)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000020297 SCV000194339 pathogenic Lissencephaly 1 2013-02-08 criteria provided, single submitter clinical testing
Broad Institute Rare Disease Group,Broad Institute RCV000020297 SCV000786710 pathogenic Lissencephaly 1 criteria provided, single submitter research The heterozygous c.1002+1G>A variant was identified by our study in one individual with Lissencephaly. Trio analysis showed this variant to be de novo. The c.1002+1G>A variant is a well-established known pathogenic variant (https://www.ncbi.nlm.nih.gov/books/NBK5189/) and loss of function is a known mechanism of disease in the PAFAH1B1 (LIS1) gene.
GeneReviews RCV000020297 SCV000040665 pathologic Lissencephaly 1 2009-03-03 no assertion criteria provided curation Converted during submission to Pathogenic.

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