Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000658936 | SCV000780738 | uncertain significance | not provided | 2022-08-01 | criteria provided, single submitter | clinical testing | MORC2: PP2, BP4 |
Invitae | RCV001053037 | SCV001217279 | uncertain significance | Charcot-Marie-Tooth disease axonal type 2Z | 2023-11-27 | criteria provided, single submitter | clinical testing | This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 731 of the MORC2 protein (p.Pro731Leu). This variant is present in population databases (rs760522350, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with MORC2-related conditions. ClinVar contains an entry for this variant (Variation ID: 546915). 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. |