ClinVar Miner

Submissions for variant NM_004329.2(BMPR1A):c.1553_1555AGA[1] (p.Lys519del)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000795420 SCV000934883 uncertain significance Juvenile polyposis syndrome 2018-08-05 criteria provided, single submitter clinical testing This variant, c.1556_1558delAGA, results in the deletion of 1 amino acid of the BMPR1A protein (p.Lys519del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with Juvenile polyposis syndrome (PMID: 16436638). This variant is also known as 1552_1554delAAG in the literature. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acid 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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