Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000505621 | SCV002174393 | pathogenic | Osteogenesis imperfecta type I | 2021-04-06 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gly130Trpfs*39) in the COL1A1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in COL1A1 are known to be pathogenic (PMID: 7942841, 9295084, 9443882). For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with osteogenesis imperfecta (PMID: 16786509). This variant is also known as c.386_387insC. ClinVar contains an entry for this variant (Variation ID: 438674). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. |
Ce |
RCV003222010 | SCV003917946 | pathogenic | not provided | 2023-01-01 | criteria provided, single submitter | clinical testing | COL1A1: PVS1, PM2 |
Bioscientia Institut fuer Medizinische Diagnostik Gmb |
RCV000505621 | SCV000599828 | pathogenic | Osteogenesis imperfecta type I | 2017-04-20 | no assertion criteria provided | clinical testing |