Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001033333 | SCV001196640 | pathogenic | Generalized juvenile polyposis/juvenile polyposis coli | 2019-05-17 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon 3 of the BMPR1A gene, which includes the initiator codon. The 5' end of this event is likely confined to intron 2 of the BMPR1A gene. The 3' boundary is likely confined to intron 3 of the BMPR1A gene. This is expected to result in an absent or disrupted protein product. A deletion of exon 3 has been observed in an individual affected with colonic polyps (PMID: 26681312). Loss-of-function variants in BMPR1A are known to be pathogenic (PMID: 11536076, 12417513). For these reasons, this variant has been classified as Pathogenic. |
| Invitae | RCV001380553 | SCV001578657 | pathogenic | Juvenile polyposis syndrome | 2022-08-15 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon(s) 3 of the BMPR1A gene, which includes the initiator codon. This deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BMPR1A are known to be pathogenic (PMID: 11536076, 12417513). A similar copy number variant has been observed in individual(s) with colonic polyps (PMID: 26681312). For these reasons, this variant has been classified as Pathogenic. |