Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000814553 | SCV000954966 | uncertain significance | Charcot-Marie-Tooth disease, axonal, type 2O | 2018-11-09 | criteria provided, single submitter | clinical testing | This sequence change affects codon 4561 of the DYNC1H1 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the DYNC1H1 protein. This variant is present in population databases (rs192742245, ExAC 0.03%). This variant has not been reported in the literature in individuals with DYNC1H1-related disease. 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. |
Gene |
RCV000842593 | SCV000984618 | likely benign | not provided | 2018-04-30 | criteria provided, single submitter | clinical testing | This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease. |