ClinVar Miner

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

dbSNP: rs1411249361
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003595708 SCV001375240 uncertain significance Juvenile polyposis syndrome 2022-12-29 criteria provided, single submitter clinical testing Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. ClinVar contains an entry for this variant (Variation ID: 935459). This variant has not been reported in the literature in individuals affected with BMPR1A-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.003%). 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. It affects a nucleotide within the consensus splice site. 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.

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