Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000206361 | SCV000259748 | uncertain significance | Juvenile polyposis syndrome | 2018-09-26 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine with histidine at codon 188 of the BMPR1A protein (p.Arg188His). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs749780872, ExAC 0.03%). This variant has not been reported in the literature in individuals with BMPR1A-related disease. ClinVar contains an entry for this variant (Variation ID: 219715). 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. 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. |
| Ambry Genetics | RCV000221059 | SCV000274204 | uncertain significance | Hereditary cancer-predisposing syndrome | 2017-12-07 | criteria provided, single submitter | clinical testing | Lines of evidence used in support of classification: Insufficient or conflicting evidence |
| Color | RCV000221059 | SCV000903156 | uncertain significance | Hereditary cancer-predisposing syndrome | 2018-07-24 | criteria provided, single submitter | clinical testing |