Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003780341 | SCV004605339 | likely benign | Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 | 2023-02-01 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004366506 | SCV005032275 | uncertain significance | Cardiovascular phenotype | 2023-10-26 | criteria provided, single submitter | clinical testing | The p.V957I variant (also known as c.2869G>A), located in coding exon 44 of the COL1A2 gene, results from a G to A substitution at nucleotide position 2869. The valine at codon 957 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is poorly 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. |