ClinVar Miner

Submissions for variant NC_000010.11:g.(?_86755016)_(87965482_?)del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000818563 SCV000959182 pathogenic Generalized juvenile polyposis/juvenile polyposis coli 2019-03-06 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. A similar whole gene deletion of BMPR1A has been observed in an individual with juvenile polyposis (PMID: 23399955). Additionally, larger deletions within chromosome 10q have also been reported (PMID: 16685657, 16287957, 18510548). Loss-of-function variants in BMPR1A are known to be pathogenic (PMID: 11536076, 12417513). For these reasons, this variant has been classified as Pathogenic.

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