ClinVar Miner

Submissions for variant NM_004329.3(BMPR1A):c.531-4A>G

dbSNP: rs1843500723
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001179529 SCV001344199 uncertain significance Hereditary cancer-predisposing syndrome 2019-06-11 criteria provided, single submitter clinical testing
Invitae RCV003595706 SCV004307943 uncertain significance Juvenile polyposis syndrome 2023-05-29 criteria provided, single submitter clinical testing 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 the activation of a cryptic splice site in intron 7 (Invitae). ClinVar contains an entry for this variant (Variation ID: 920672). 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). This sequence change falls in intron 7 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 likely results in the gain of 1 amino acid residue(s), but is expected to preserve the integrity of the reading-frame.

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