Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Equipe Genetique des Anomalies du Developpement, |
RCV000006887 | SCV001985043 | pathogenic | Asphyxiating thoracic dystrophy 3 | 2021-09-02 | criteria provided, single submitter | clinical testing | This variant was observed in compound heterozygosity with variant c.9044A>G |
Invitae | RCV001851710 | SCV002236676 | pathogenic | Jeune thoracic dystrophy | 2023-11-22 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Leu3377Cysfs*35) 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 (rs574497162, gnomAD 0.03%). This premature translational stop signal has been observed in individual(s) with short rib-polydactyly syndrome type III (PMID: 19442771). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 6514). For these reasons, this variant has been classified as Pathogenic. |
Gene |
RCV003229800 | SCV003927696 | pathogenic | not provided | 2022-11-21 | criteria provided, single submitter | clinical testing | Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 19442771) |
OMIM | RCV000006887 | SCV000027083 | pathogenic | Asphyxiating thoracic dystrophy 3 | 2009-05-01 | no assertion criteria provided | literature only |