Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003044474 | SCV003352370 | uncertain significance | Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 | 2023-09-03 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 2130316). This variant has not been reported in the literature in individuals affected with COL1A2-related conditions. This variant is present in population databases (rs769478947, gnomAD 0.002%). This sequence change falls in intron 39 of the COL1A2 gene. It does not directly change the encoded amino acid sequence of the COL1A2 protein. |