Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001227413 | SCV001399772 | uncertain significance | Charcot-Marie-Tooth disease axonal type 2Z | 2022-05-05 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 3 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 (rs764556739, gnomAD 0.003%). This variant has been observed in individual(s) with neuromuscular weakness and sensory and motor neuropathy (Invitae). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 954879). 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. |