Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001017225 | SCV001178270 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-08-15 | criteria provided, single submitter | clinical testing | The p.R361L variant (also known as c.1082G>T), located in coding exon 8 of the BMPR1A gene, results from a G to T substitution at nucleotide position 1082. The arginine at codon 361 is replaced by leucine, an amino acid with dissimilar 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. |