Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001389739 | SCV001591192 | pathogenic | Osteogenesis imperfecta type I | 2022-11-29 | 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: 1076006). This premature translational stop signal has been observed in individual(s) with osteogenesis imperfecta (Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Asp97Thrfs*168) 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). |
| Ambry Genetics | RCV002438893 | SCV002749635 | pathogenic | Cardiovascular phenotype | 2021-06-25 | criteria provided, single submitter | clinical testing | The c.288delC pathogenic mutation, located in coding exon 2 of the COL1A1 gene, results from a deletion of one nucleotide at nucleotide position 288, causing a translational frameshift with a predicted alternate stop codon (p.D97Tfs*168). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. |
| Fulgent Genetics, |
RCV002499816 | SCV002805063 | pathogenic | Osteogenesis imperfecta with normal sclerae, dominant form; Osteogenesis imperfecta, perinatal lethal; Osteogenesis imperfecta type III; Infantile cortical hyperostosis; Ehlers-Danlos syndrome, arthrochalasia type; Osteogenesis imperfecta type I; Osteoporosis; Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 1 | 2021-11-17 | criteria provided, single submitter | clinical testing |