Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001520548 | SCV001729670 | benign | Familial aplasia of the vermis; Orofaciodigital syndrome I | 2023-11-15 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002346021 | SCV002647489 | uncertain significance | Primary ciliary dyskinesia; Inborn genetic diseases | 2019-09-17 | criteria provided, single submitter | clinical testing | The p.R190H variant (also known as c.569G>A), located in coding exon 7 of the OFD1 gene, results from a G to A substitution at nucleotide position 569. The arginine at codon 190 is replaced by histidine, an amino acid with highly similar properties. This amino acid position is not conserved and histidine is a reference amino acid in several species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |