ClinVar Miner

Submissions for variant NM_000430.4(PAFAH1B1):c.817C>T (p.Arg273Ter) (rs121434483)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000255710 SCV000322236 pathogenic not provided 2018-10-16 criteria provided, single submitter clinical testing The R273X nonsense variant in the PAFAH1B1 gene has been reported multiple times previously as ade novo variant in individuals with isolated lissencephaly sequence (Lo Nigro et al., 1997; Cardoso etal., 2000). This pathogenic variant is predicted to cause loss of normal protein function either throughprotein truncation or nonsense-mediated mRNA decay.
Genetic Services Laboratory, University of Chicago RCV000008541 SCV000194409 pathogenic Lissencephaly 1 2013-02-08 criteria provided, single submitter clinical testing
OMIM RCV000008541 SCV000028749 pathogenic Lissencephaly 1 1997-02-01 no assertion criteria provided literature only

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