Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000412834 | SCV000492330 | uncertain significance | not specified | 2016-12-02 | criteria provided, single submitter | clinical testing | A variant of uncertain significance has been identified in the MBD5 gene. The C7S variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The C7S variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The C7S 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 in mammals. However, in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Additionally, to our knowledge, only loss-of-function pathogenic variants in MBD5 have been published in association with epilepsy. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant. |
| Labcorp Genetics |
RCV000817602 | SCV000958171 | likely benign | Intellectual disability, autosomal dominant 1 | 2024-04-24 | criteria provided, single submitter | clinical testing | |
| Revvity Omics, |
RCV000817602 | SCV003808307 | uncertain significance | Intellectual disability, autosomal dominant 1 | 2021-07-22 | criteria provided, single submitter | clinical testing |