ClinVar Miner

Submissions for variant NM_000430.4(PAFAH1B1):c.1159+1G>A

dbSNP: rs1057520515
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000424252 SCV000515788 pathogenic not provided 2015-03-05 criteria provided, single submitter clinical testing The c.1159+1 G>A splice site variant in the PAFAH1B1 gene destroys the canonical splice donor site inintron 10. It is predicted to cause abnormal gene splicing, either leading to an abnormal message that is subjectto nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for proteintranslation. Although this variant has not been previously reported to our knowledge, however we consider it to be a pathogenic variant.
Genetic Services Laboratory, University of Chicago RCV000502763 SCV000596203 pathogenic Lissencephaly due to LIS1 mutation 2016-09-21 criteria provided, single submitter clinical testing

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