ClinVar Miner

Submissions for variant NM_004329.3(BMPR1A):c.37G>C (p.Ala13Pro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003763260 SCV004450784 uncertain significance Juvenile polyposis syndrome 2023-03-24 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with BMPR1A-related conditions. This sequence change replaces alanine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 13 of the BMPR1A protein (p.Ala13Pro). This variant is not present in population databases (gnomAD no frequency). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt BMPR1A protein function. 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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