ClinVar Miner

Submissions for variant NC_000010.11:g.(?_86876009)_(86923729_?)del

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000803913 SCV000943801 pathogenic Generalized juvenile polyposis/juvenile polyposis coli 2019-01-21 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the BMPR1A gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. Truncating variants, including whole gene deletions, in BMPR1A are known to be pathogenic. A similar whole gene deletion has been reported in the literature in an individual affected with colorectal polyps (PMID: 23399955). For these reasons, this variant has been classified as Pathogenic.
Labcorp Genetics (formerly Invitae), Labcorp RCV001380552 SCV001578656 pathogenic Juvenile polyposis syndrome 2019-01-19 criteria provided, single submitter clinical testing A gross deletion of the genomic region encompassing the full coding sequence of the BMPR1A gene has been identified. The boundaries of this event are unknown as the deletion extends beyond the assayed region for this gene and therefore may encompass additional genes. Truncating variants, including whole gene deletions, in BMPR1A are known to be pathogenic. A similar whole gene deletion has been reported in the literature in an individual affected with colorectal polyps (PMID: 23399955). For these reasons, this variant has been classified as Pathogenic.

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