ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.7277G>T (p.Arg2426Leu)

gnomAD frequency: 0.00002  dbSNP: rs373521030
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001755760 SCV002005212 uncertain significance not provided 2020-11-09 criteria provided, single submitter clinical testing Identified in a prenatal proband with asphyxiating thoracic dystrophy in published literature (Zhang et al., 2018); Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 29068549, 33369054)
Dan Cohn Lab, University Of California Los Angeles RCV000515937 SCV000611920 pathogenic Jeune thoracic dystrophy 2017-06-01 no assertion criteria provided research
University of Washington Center for Mendelian Genomics, University of Washington RCV000515937 SCV001479875 likely pathogenic Jeune thoracic dystrophy no assertion criteria provided research

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