ClinVar Miner

Submissions for variant NM_001202.6(BMP4):c.673A>G (p.Thr225Ala)

gnomAD frequency: 0.00014  dbSNP: rs144556455
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV001112674 SCV001270359 benign Microphthalmia with brain and digit anomalies 2017-08-07 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
Invitae RCV001856491 SCV002198153 uncertain significance Microphthalmia with brain and digit anomalies; Orofacial cleft 11 2023-11-25 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 225 of the BMP4 protein (p.Thr225Ala). This variant is present in population databases (rs144556455, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with BMP4-related conditions. ClinVar contains an entry for this variant (Variation ID: 882740). 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 with a negative predictive value of 80%. 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.
CeGaT Center for Human Genetics Tuebingen RCV003883555 SCV004701588 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing BMP4: BP4, BS1

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