Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000515929 | SCV004540573 | pathogenic | Jeune thoracic dystrophy | 2023-03-03 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This sequence change creates a premature translational stop signal (p.Val1976Leufs*17) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with autosomal recessive asphyxiating thoracic dystrophy (aka Jeune syndrome) (PMID: 29068549). ClinVar contains an entry for this variant (Variation ID: 446588). |
Dan Cohn Lab, |
RCV000515929 | SCV000611983 | pathogenic | Jeune thoracic dystrophy | 2017-06-01 | no assertion criteria provided | research | |
University of Washington Center for Mendelian Genomics, |
RCV000515929 | SCV001479573 | likely pathogenic | Jeune thoracic dystrophy | no assertion criteria provided | research |