Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002241104 | SCV001384413 | likely benign | Osteogenesis imperfecta type I; Ehlers-Danlos syndrome, classic type, 1 | 2023-08-04 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001587230 | SCV001814653 | uncertain significance | not provided | 2023-05-30 | criteria provided, single submitter | clinical testing | Not located in the triple helical region, where the majority of pathogenic missense variants occur (HGMD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Ambry Genetics | RCV002348703 | SCV002622656 | uncertain significance | Cardiovascular phenotype | 2022-06-06 | criteria provided, single submitter | clinical testing | The p.S1247Y variant (also known as c.3740C>A), located in coding exon 51 of the COL1A2 gene, results from a C to A substitution at nucleotide position 3740. The serine at codon 1247 is replaced by tyrosine, an amino acid with dissimilar 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. |