ClinVar Miner

Submissions for variant NM_001203.3(BMPR1B):c.1190T>C (p.Met397Thr)

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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 RCV002913762 SCV003253635 uncertain significance Type A2 brachydactyly; Acromesomelic dysplasia 3 2022-08-16 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). 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. 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 BMPR1B protein function. This variant has not been reported in the literature in individuals affected with BMPR1B-related conditions. This sequence change replaces methionine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 397 of the BMPR1B protein (p.Met397Thr).

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