Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003748241 | SCV004538839 | pathogenic | Jeune thoracic dystrophy | 2023-12-01 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg3912Phefs*26) 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 not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with DYNC2H1-related conditions (PMID: 29068549). ClinVar contains an entry for this variant (Variation ID: 446583). For these reasons, this variant has been classified as Pathogenic. |
Dan Cohn Lab, |
RCV001291170 | SCV000611976 | pathogenic | Asphyxiating thoracic dystrophy 3 | 2017-06-01 | no assertion criteria provided | research | |
University of Washington Center for Mendelian Genomics, |
RCV001291170 | SCV001479566 | likely pathogenic | Asphyxiating thoracic dystrophy 3 | no assertion criteria provided | research |