ClinVar Miner

Submissions for variant NM_004329.3(BMPR1A):c.68-3710_68-3696delinsCC

dbSNP: rs2539407411
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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 RCV003597003 SCV004316794 uncertain significance Juvenile polyposis syndrome 2023-08-17 criteria provided, single submitter clinical testing This sequence change falls in intron 3 of the BMPR1A gene. It does not directly change the encoded amino acid sequence of the BMPR1A protein. RNA analysis indicates that this variant induces altered splicing and may result in an absent or disrupted protein product. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Studies have shown that this variant results in activation of a cryptic splice site and introduces a premature termination codon (Invitae). The resulting mRNA is expected to undergo nonsense-mediated decay. This variant has not been reported in the literature in individuals affected with BMPR1A-related conditions. This variant is not present in population databases (gnomAD no frequency).

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