ClinVar Miner

Submissions for variant NM_001202.6(BMP4):c.394A>T (p.Thr132Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003790655 SCV004582450 uncertain significance Microphthalmia with brain and digit anomalies; Orofacial cleft 11 2022-11-07 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change replaces threonine, which is neutral and polar, with serine, which is neutral and polar, at codon 132 of the BMP4 protein (p.Thr132Ser). This variant has not been reported in the literature in individuals affected with BMP4-related conditions. 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 BMP4 protein function.

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