ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.7984C>T (p.Arg2662Trp)

gnomAD frequency: 0.00001  dbSNP: rs964711006
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV003324758 SCV004030587 likely pathogenic not provided 2023-03-13 criteria provided, single submitter clinical testing Reported heterozygous with another variant in the DYNC2H1 gene, phase unknown, in an individual with a skeletal ciliopathy (Zhang et al., 2018) Zhang W et al. (2018) Hum Mutat 39 (1):152-166 (PMID: 29068549); Not observed at significant frequency in large population cohorts (gnomAD); 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)
Dan Cohn Lab, University Of California Los Angeles RCV001291157 SCV000612001 pathogenic Asphyxiating thoracic dystrophy 3 2017-06-01 no assertion criteria provided research
Dan Cohn Lab, University Of California Los Angeles RCV001291157 SCV000612108 pathogenic Asphyxiating thoracic dystrophy 3 2017-06-01 no assertion criteria provided research
University of Washington Center for Mendelian Genomics, University of Washington RCV001291157 SCV001479538 likely pathogenic Asphyxiating thoracic dystrophy 3 no assertion criteria provided research

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