Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002948290 | SCV003275450 | uncertain significance | Microphthalmia with brain and digit anomalies; Orofacial cleft 11 | 2022-07-23 | 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 280 of the BMP4 protein (p.Arg280Trp). This variant is present in population databases (rs566882530, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with BMP4-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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. |