ClinVar Miner

Submissions for variant NM_004329.3(BMPR1A):c.868+9A>G

gnomAD frequency: 0.00001  dbSNP: rs766298777
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000582057 SCV000688298 uncertain significance Hereditary cancer-predisposing syndrome 2019-04-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002233470 SCV000935527 uncertain significance Juvenile polyposis syndrome 2025-02-02 criteria provided, single submitter clinical testing This sequence change falls in intron 9 of the BMPR1A gene. It does not directly change the encoded amino acid sequence of the BMPR1A protein. This variant is present in population databases (rs766298777, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with BMPR1A-related conditions. ClinVar contains an entry for this variant (Variation ID: 491017). Studies have shown that this variant is associated with inconclusive levels of altered splicing (internal data). 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.
Myriad Genetics, Inc. RCV002233470 SCV005406941 likely benign Juvenile polyposis syndrome 2024-08-05 criteria provided, single submitter clinical testing This variant is considered likely benign. This variant is intronic and is not expected to impact mRNA splicing.

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