ClinVar Miner

Submissions for variant NM_004329.2(BMPR1A):c.1511G>A (p.Trp504Ter) (rs878854664)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000226766 SCV000288387 pathogenic Juvenile polyposis syndrome 2018-12-20 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the BMPR1A gene (p.Trp504*). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 29 amino acids of the BMPR1A protein. This variant is not present in population databases (ExAC no frequency). This variant has been observed to segregate with juvenile polyposis in a family (Invitae). ClinVar contains an entry for this variant (Variation ID: 239856). This variant leads to the truncation of the last 29 amino acids of the BMPR1A protein, including the loss of the C-terminal portion of the kinase domain (PMID: 8397373). However, experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acids is currently unknown. For these reasons, this variant has been classified as Pathogenic.
Ambry Genetics RCV000494677 SCV000581492 pathogenic Hereditary cancer-predisposing syndrome 2011-03-18 criteria provided, single submitter clinical testing

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