Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001055118 | SCV001219488 | pathogenic | Osteogenesis imperfecta type I | 2020-11-06 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Asp1441 amino acid residue in COL1A1. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 25146735, 11826020). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. This variant has been observed in individual(s) with osteogenesis imperfecta (PMID: 27509835, 19199251). In at least one individual the variant was observed to be de novo. This variant is not present in population databases (ExAC no frequency). This sequence change replaces aspartic acid with histidine at codon 1441 of the COL1A1 protein (p.Asp1441His). The aspartic acid residue is highly conserved and there is a moderate physicochemical difference between aspartic acid and histidine. |