Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000493995 | SCV000581803 | uncertain significance | not provided | 2017-05-04 | criteria provided, single submitter | clinical testing | The S1469P variant in the MBD5 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The S1469P variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The S1469P variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret S1469P as a variant of uncertain significance. |
Labcorp Genetics |
RCV001360993 | SCV001556950 | uncertain significance | Intellectual disability, autosomal dominant 1 | 2020-01-01 | 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. This variant has not been reported in the literature in individuals with MBD5-related conditions. ClinVar contains an entry for this variant (Variation ID: 429276). This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with proline at codon 1469 of the MBD5 protein (p.Ser1469Pro). The serine residue is highly conserved and there is a moderate physicochemical difference between serine and proline. |