Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV001195942 | SCV001366366 | uncertain significance | Autosomal dominant centronuclear myopathy | 2019-01-30 | criteria provided, single submitter | clinical testing | This variant was classified as: Uncertain significance. The available evidence on this variant's pathogenicity is insufficient or conflicting. The following ACMG criteria were applied in classifying this variant: BP4. |
Invitae | RCV003617917 | SCV004393172 | uncertain significance | Charcot-Marie-Tooth disease dominant intermediate B | 2022-10-28 | criteria provided, single submitter | clinical testing | 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. 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: 930350). This variant has not been reported in the literature in individuals affected with DNM2-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change falls in intron 19 of the DNM2 gene. It does not directly change the encoded amino acid sequence of the DNM2 protein. |