ClinVar Miner

Submissions for variant NM_001202.6(BMP4):c.898C>T (p.Arg300Trp)

gnomAD frequency: 0.00008  dbSNP: rs182373336
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000431465 SCV000530588 uncertain significance not provided 2019-06-20 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
CeGaT Center for Human Genetics Tuebingen RCV000431465 SCV001746195 likely benign not provided 2021-07-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001865369 SCV002212982 uncertain significance Microphthalmia with brain and digit anomalies; Orofacial cleft 11 2023-09-27 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 300 of the BMP4 protein (p.Arg300Trp). This variant is present in population databases (rs182373336, 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: 388306). 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. 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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