Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000808990 | SCV000949124 | uncertain significance | Intellectual disability, autosomal dominant 1 | 2023-10-25 | criteria provided, single submitter | clinical testing | This sequence change replaces methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 1274 of the MBD5 protein (p.Met1274Val). This variant is present in population databases (rs572436251, gnomAD 0.04%). This variant has not been reported in the literature in individuals affected with MBD5-related conditions. ClinVar contains an entry for this variant (Variation ID: 653248). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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. |
Revvity Omics, |
RCV000808990 | SCV003810791 | uncertain significance | Intellectual disability, autosomal dominant 1 | 2019-09-07 | criteria provided, single submitter | clinical testing |