ClinVar Miner

Submissions for variant NM_001377.3(DYNC2H1):c.8050G>T (p.Gly2684Ter)

gnomAD frequency: 0.00001  dbSNP: rs747857715
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003748243 SCV004538838 pathogenic Jeune thoracic dystrophy 2024-01-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly2684*) 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 (rs747857715, gnomAD 0.002%). 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: 446607). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV001291289 SCV005678335 likely pathogenic Asphyxiating thoracic dystrophy 3 2024-05-08 criteria provided, single submitter clinical testing
Dan Cohn Lab, University Of California Los Angeles RCV001291289 SCV000612008 pathogenic Asphyxiating thoracic dystrophy 3 2017-06-01 no assertion criteria provided research
University of Washington Center for Mendelian Genomics, University of Washington RCV001291289 SCV001479742 likely pathogenic Asphyxiating thoracic dystrophy 3 no assertion criteria provided research

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