Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001014136 | SCV001174812 | uncertain significance | Hereditary cancer-predisposing syndrome | 2018-06-29 | criteria provided, single submitter | clinical testing | The p.P68T variant (also known as c.202C>A), located in coding exon 2 of the BMPR1A gene, results from a C to A substitution at nucleotide position 202. The proline at codon 68 is replaced by threonine, an amino acid with highly similar properties. This amino acid position is highly 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. |