Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000622312 | SCV000741469 | pathogenic | Inborn genetic diseases | 2016-04-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001868144 | SCV002317773 | likely pathogenic | Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 | 2021-02-05 | criteria provided, single submitter | clinical testing | 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. This variant has been observed in individual(s) with clinical features of autosomal dominant COL1A2-related conditions (Invitae). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 521055). This variant is not present in population databases (ExAC no frequency). This variant, c.2965_2973dup, results in the insertion of 3 amino acid(s) to the COL1A2 protein (p.Pro989_Gly991dup), but otherwise preserves the integrity of the reading frame. |