Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000465770 | SCV000547845 | pathogenic | Charcot-Marie-Tooth disease type 4 | 2018-05-29 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg577*) in the FGD4 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs778377449, ExAC 0.001%). This variant has not been reported in the literature in individuals with FGD4-related disease. ClinVar contains an entry for this variant (Variation ID: 408261). Loss-of-function variants in FGD4 are known to be pathogenic (PMID: 17564972). For these reasons, this variant has been classified as Pathogenic. |