Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001360662 | SCV001556589 | uncertain significance | Juvenile polyposis syndrome | 2020-09-03 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt BMPR1A protein function. This variant has not been reported in the literature in individuals with BMPR1A-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with phenylalanine at codon 307 of the BMPR1A protein (p.Leu307Phe). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and phenylalanine. |
| Ambry Genetics | RCV004036773 | SCV005022065 | uncertain significance | Hereditary cancer-predisposing syndrome | 2024-01-01 | criteria provided, single submitter | clinical testing | The p.L307F variant (also known as c.921G>C), located in coding exon 8 of the BMPR1A gene, results from a G to C substitution at nucleotide position 921. The leucine at codon 307 is replaced by phenylalanine, an amino acid with highly similar properties. This amino acid position is conserved. 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. |