Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003037242 | SCV003440610 | likely pathogenic | Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 | 2023-05-20 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 2136570). This variant is also known as c.2425_2433dupCCCCCTGGT (p.Pro809_Gly811dup) and c.2419_2427dup (p.Pro807_Pro809dup). This variant has been observed in individual(s) with autosomal dominant osteogenesis imperfecta (PMID: 16705691, 31363794; Invitae). This variant is not present in population databases (gnomAD no frequency). This variant, c.2427_2435dup, results in the insertion of 3 amino acid(s) of the COL1A2 protein (p.Pro810_Pro812dup), but otherwise preserves the integrity of the reading frame. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. |