Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000817932 | SCV000958519 | pathogenic | Generalized juvenile polyposis/juvenile polyposis coli | 2018-10-11 | 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. |