ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.10585C>T (p.Arg3529Ter)

gnomAD frequency: 0.00001  dbSNP: rs562139820
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000459333 SCV000546161 pathogenic Jeune thoracic dystrophy 2023-11-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg3536*) 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). This variant is present in population databases (rs562139820, gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with asphyxiating thoracic dystrophy (PMID: 23339108). ClinVar contains an entry for this variant (Variation ID: 407155). For these reasons, this variant has been classified as Pathogenic.
Dan Cohn Lab, University Of California Los Angeles RCV001291287 SCV000612003 pathogenic Asphyxiating thoracic dystrophy 3 2017-06-01 no assertion criteria provided research
University of Washington Center for Mendelian Genomics, University of Washington RCV001291287 SCV001479737 likely pathogenic Asphyxiating thoracic dystrophy 3 no assertion criteria provided research

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