Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001853128 | SCV002238932 | pathogenic | not provided | 2022-08-23 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 212766). This premature translational stop signal has been observed in individual(s) with short-rib thoracic dysplasia (PMID: 26077881). This variant is present in population databases (rs769975073, gnomAD 0.01%). This sequence change creates a premature translational stop signal (p.Trp124*) in the DYNC2LI1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DYNC2LI1 are known to be pathogenic (PMID: 26077881, 26130459). |
David Geffen School of Medicine, |
RCV000754097 | SCV000212254 | pathogenic | Asphyxiating thoracic dystrophy 1 | no assertion criteria provided | research | ||
OMIM | RCV000239657 | SCV000298009 | pathogenic | Short-rib thoracic dysplasia 15 with polydactyly | 2015-06-16 | no assertion criteria provided | literature only |