Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV002826310 | SCV003600037 | uncertain significance | Inborn genetic diseases | 2022-01-26 | criteria provided, single submitter | clinical testing | The c.251G>A (p.R84Q) alteration is located in exon 3 (coding exon 1) of the BMP4 gene. This alteration results from a G to A substitution at nucleotide position 251, causing the arginine (R) at amino acid position 84 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
| Invitae | RCV003777797 | SCV004588433 | uncertain significance | Microphthalmia with brain and digit anomalies; Orofacial cleft 11 | 2023-04-26 | criteria provided, single submitter | clinical testing | 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. ClinVar contains an entry for this variant (Variation ID: 2273311). This variant has not been reported in the literature in individuals affected with BMP4-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 84 of the BMP4 protein (p.Arg84Gln). |