ClinVar Miner

Submissions for variant NM_004329.2(BMPR1A):c.-548_-268del (rs1564673999)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000692917 SCV000820766 pathogenic Juvenile polyposis syndrome 2018-12-25 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing the promoter (non-coding exon 1) of the BMPR1A gene. The 5' end of this event is unknown as it extends beyond the assayed region for this gene, and therefore may encompass additional genes. The 3' boundary is likely confined to the region between non-coding exon 1 and non-coding exon 2. A large genomic deletion involving the promoter region (non-coding exon 1) has been reported to segregate with BMPR1A-related disease in a family (PMID: 20843829). A similar deletion involving the promoter region has also been reported in an individual with congenital heart defect who was pending for juvenile polyposis screening (PMID: 22067610). Experimental studies have shown that deletion of this promoter region impairs the transcription of a reporter gene in vitro, and protein samples derived from individuals carrying this variant showed reduced BMPR1A protein levels compared to a control sample (PMID: 20843829, 21872883). For these reasons, this variant has been classified as Pathogenic.

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