ClinVar Miner

Submissions for variant NM_031263.4(HNRNPK):c.257G>A (p.Arg86His)

dbSNP: rs863223403
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genetics Research Group, University of Calgary RCV000195291 SCV000223813 pathogenic Au-Kline syndrome 2018-01-07 criteria provided, single submitter research
Baylor-Hopkins Center for Mendelian Genomics, Johns Hopkins University School of Medicine RCV000195291 SCV000266551 pathogenic Au-Kline syndrome criteria provided, single submitter research
Fulgent Genetics, Fulgent Genetics RCV000195291 SCV000894480 likely pathogenic Au-Kline syndrome 2018-10-31 criteria provided, single submitter clinical testing
OMIM RCV000195291 SCV000249598 pathogenic Au-Kline syndrome 2015-10-01 no assertion criteria provided literature only
GeneReviews RCV000195291 SCV000899162 not provided Au-Kline syndrome no assertion provided literature only This variant is predicted to result in a missense variant (p.Arg86His) but has been shown to cause a splicing defect and decreased protein production.

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