Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002099540 | SCV002323859 | likely benign | Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 | 2023-10-17 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002324517 | SCV002605596 | uncertain significance | Cardiovascular phenotype | 2021-12-15 | criteria provided, single submitter | clinical testing | The p.D1113N variant (also known as c.3337G>A), located in coding exon 49 of the COL1A2 gene, results from a G to A substitution at nucleotide position 3337. The aspartic acid at codon 1113 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is not well conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |