ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.9565C>T (p.Gln3189Ter)

gnomAD frequency: 0.00003  dbSNP: rs373924400
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002527447 SCV003459430 pathogenic Jeune thoracic dystrophy 2023-11-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln3189*) in the DYNC2H1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DYNC2H1 are known to be pathogenic (PMID: 23339108, 32753734, 33755199). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This premature translational stop signal has been observed in individual(s) with clinical features of DYNC2H1-related conditions (PMID: 29068549). ClinVar contains an entry for this variant (Variation ID: 446542). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Dan Cohn Lab, University Of California Los Angeles RCV001291397 SCV000611917 pathogenic Asphyxiating thoracic dystrophy 3 2017-06-01 no assertion criteria provided research
University of Washington Center for Mendelian Genomics, University of Washington RCV001291397 SCV001479873 likely pathogenic Asphyxiating thoracic dystrophy 3 no assertion criteria provided research

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