Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001352406 | SCV001546958 | uncertain significance | Intellectual disability, autosomal dominant 1 | 2023-03-25 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with lysine, which is basic and polar, at codon 1020 of the MBD5 protein (p.Arg1020Lys). This variant is present in population databases (rs758196921, gnomAD 0.006%). 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt MBD5 protein function. ClinVar contains an entry for this variant (Variation ID: 1047665). This variant has not been reported in the literature in individuals affected with MBD5-related conditions. |
| Ambry Genetics | RCV004036684 | SCV004902879 | uncertain significance | Inborn genetic diseases | 2024-01-30 | criteria provided, single submitter | clinical testing | The c.3059G>A (p.R1020K) alteration is located in exon 12 (coding exon 7) of the MBD5 gene. This alteration results from a G to A substitution at nucleotide position 3059, causing the arginine (R) at amino acid position 1020 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |