ClinVar Miner

Submissions for variant NM_004329.2(BMPR1A):c.559_561CGT[1] (p.Arg188del) (rs751105749)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000539768 SCV000632724 uncertain significance Juvenile polyposis syndrome 2017-05-31 criteria provided, single submitter clinical testing This variant, c.562_564delCGT, results in the deletion of 1 amino acid of the BMPR1A protein (p.Arg188del), but otherwise preserves the integrity of the reading frame. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with a BMPR1A-related disease. 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, this variant has uncertain impact on BMPR1A function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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