Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002057049 | SCV002494330 | likely benign | Familial aplasia of the vermis; Orofaciodigital syndrome I | 2021-08-22 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV002336553 | SCV002618894 | uncertain significance | Primary ciliary dyskinesia; Inborn genetic diseases | 2017-03-09 | criteria provided, single submitter | clinical testing | The p.P119T variant (also known as c.355C>A), located in coding exon 4 of the OFD1 gene, results from a C to A substitution at nucleotide position 355. The proline at codon 119 is replaced by threonine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |