Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001378402 | SCV001575959 | likely pathogenic | Juvenile polyposis syndrome | 2022-08-27 | criteria provided, single submitter | clinical testing | In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This variant disrupts the cytoplasmic and protein kinase domains of the BMPR1A protein, which are required for the regulation of the TGF-β/BMP pathways (PMID: 8397373, 14526373, 23433720). While functional studies have not been performed to directly test the effect of this variant on BMPR1A protein function, this suggests that disruption of this region of the protein is causative of disease. A similar copy number variant has been observed in individual(s) with clinical features of juvenile polyposis syndrome (PMID: 23399955; Invitae). This variant is a gross deletion of the genomic region encompassing exon(s) 8-13 of the BMPR1A gene, which includes the termination codon. This deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. While this deletion is not anticipated to lead to nonsense mediated decay, it is expected to alter mRNA translation or result in a truncated protein product. |