ClinVar Miner

Submissions for variant NM_004329.2(BMPR1A):c.1552_1553insTAAT (p.Lys518fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000808879 SCV000949008 uncertain significance Juvenile polyposis syndrome 2018-11-09 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the BMPR1A gene (p.Lys518Ilefs*10). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 15 amino acids of the BMPR1A protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BMPR1A-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. 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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