ClinVar Miner

Submissions for variant NM_004329.3(BMPR1A):c.517T>G (p.Cys173Gly)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
All of Us Research Program, National Institutes of Health RCV004802645 SCV005423981 uncertain significance Juvenile polyposis syndrome 2024-07-20 criteria provided, single submitter clinical testing This missense variant replaces cysteine with glycine at codon 173 of the BMPR1A protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with BMPR1A-related disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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