ClinVar Miner

Submissions for variant NM_004329.2(BMPR1A):c.753C>T (p.Gly251=) (rs878854674)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000234021 SCV000288401 uncertain significance Juvenile polyposis syndrome 2016-11-08 criteria provided, single submitter clinical testing This sequence change affects codon 251 of the BMPR1A mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the BMPR1A protein. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a BMPR1A-related disease. ClinVar contains an entry for this variant (Variation ID: 239868). Algorithms developed to predict the effect of silent changes on mRNA splicing suggest that this variant may alter mRNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this is a rare silent change with uncertain impact on mRNA splicing. It has been classified as a Variant of Uncertain Significance.
Color RCV000771209 SCV000903230 uncertain significance Hereditary cancer-predisposing syndrome 2018-09-19 criteria provided, single submitter clinical testing

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