Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000188075 | SCV000241679 | likely benign | not specified | 2017-07-06 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |
Invitae | RCV000694398 | SCV000822842 | uncertain significance | Mental retardation, autosomal dominant 1 | 2019-11-21 | criteria provided, single submitter | clinical testing | This sequence change replaces methionine with valine at codon 321 of the MBD5 protein (p.Met321Val). The methionine residue is highly conserved and there is a small physicochemical difference between methionine and valine. This variant is present in population databases (rs369869865, ExAC 0.006%). This variant has not been reported in the literature in individuals with MBD5-related disease. ClinVar contains an entry for this variant (Variation ID: 206065). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15"). 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. |
Ambry Genetics | RCV000718132 | SCV000848994 | uncertain significance | History of neurodevelopmental disorder | 2018-12-03 | criteria provided, single submitter | clinical testing | Insufficient evidence |