Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001234232 | SCV001406867 | uncertain significance | Juvenile polyposis syndrome | 2019-11-02 | 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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 threonine with alanine at codon 55 of the BMPR1A protein (p.Thr55Ala). The threonine residue is moderately conserved and there is a small physicochemical difference between threonine and alanine. |
| Ambry Genetics | RCV002393590 | SCV002703045 | uncertain significance | Hereditary cancer-predisposing syndrome | 2021-04-15 | criteria provided, single submitter | clinical testing | The p.T55A variant (also known as c.163A>G), located in coding exon 2 of the BMPR1A gene, results from an A to G substitution at nucleotide position 163. The threonine at codon 55 is replaced by alanine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate 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. |