ClinVar Miner

Submissions for variant NC_000010.10:g.(?_88651874)_(88651996_?)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 RCV001380554 SCV001578658 pathogenic Juvenile polyposis syndrome 2020-06-13 criteria provided, single submitter clinical testing Loss-of-function variants in BMPR1A are known to be pathogenic (PMID: 11536076, 12417513). This variant has not been reported in the literature in individuals with BMPR1A-related conditions. This variant is an out-of-frame deletion of the genomic region encompassing exon 5 of the BMPR1A gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. For these reasons, this variant has been classified as Pathogenic.

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