Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003069750 | SCV003471804 | uncertain significance | Microphthalmia with brain and digit anomalies; Orofacial cleft 11 | 2022-09-14 | 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C15"). This variant has not been reported in the literature in individuals affected with BMP4-related conditions. This variant is present in population databases (rs565895316, gnomAD 0.03%). This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 30 of the BMP4 protein (p.Thr30Met). |
Prevention |
RCV003404067 | SCV004121128 | uncertain significance | BMP4-related disorder | 2022-12-14 | criteria provided, single submitter | clinical testing | The BMP4 c.89C>T variant is predicted to result in the amino acid substitution p.Thr30Met. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.032% of alleles in individuals of Latino descent in gnomAD (http://gnomad.broadinstitute.org/variant/14-54418852-G-A). Although we suspect that this variant may be benign, at this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |