Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000188117 | SCV000241724 | uncertain significance | not provided | 2014-09-26 | criteria provided, single submitter | clinical testing | p.Asp1180Val (D1180V) GAT>GTT: c.3539 A>T in exon 12 of the MBD5 gene (NM_018328.4) The D1180V variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The D1180V 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 through mammals. In silico analysis predicts this variant is probably damaging to the protein structure/function. However, to our knowledge, only deletions and frameshift mutations 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 mutation or a rare benign variant. The variant is found in INFANT-EPI panel(s). |
| Labcorp Genetics |
RCV000472716 | SCV000545115 | likely benign | Intellectual disability, autosomal dominant 1 | 2023-11-27 | criteria provided, single submitter | clinical testing | |
| Fulgent Genetics, |
RCV000472716 | SCV000896828 | uncertain significance | Intellectual disability, autosomal dominant 1 | 2018-10-31 | criteria provided, single submitter | clinical testing |