Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000652683 | SCV000774554 | uncertain significance | Charcot-Marie-Tooth disease axonal type 2Z | 2023-08-17 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 542282). This sequence change falls in intron 11 of the MORC2 gene. It does not directly change the encoded amino acid sequence of the MORC2 protein. This variant is present in population databases (rs370880177, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with MORC2-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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. |