ClinVar Miner

Submissions for variant NC_000010.10:g.(?_88678919)_(88679236_?)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 RCV001970157 SCV002235837 pathogenic Juvenile polyposis syndrome 2021-01-28 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with BMPR1A-related conditions. This variant is a gross deletion of the genomic region encompassing exon(s) 10 of the BMPR1A gene. This deletion is out-of-frame, and is expected to create a premature translational stop signal and result in an absent or disrupted protein product. Loss-of-function variants in BMPR1A are known to be pathogenic (PMID: 11536076, 12417513).

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