Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001910504 | SCV002196114 | uncertain significance | Intellectual disability, autosomal dominant 1 | 2023-08-28 | criteria provided, single submitter | clinical testing | This missense change has been observed in individual(s) with clinical features of MBD5-related disease (Invitae). This variant is present in population databases (rs142913108, gnomAD 0.004%). This sequence change replaces proline, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1250 of the MBD5 protein (p.Pro1250Thr). 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 1419634). |
| Ambry Genetics | RCV003167223 | SCV003887811 | likely benign | Inborn genetic diseases | 2023-02-14 | criteria provided, single submitter | clinical testing | This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity. |