Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001248027 | SCV001421486 | pathogenic | Charcot-Marie-Tooth disease type 4 | 2019-11-08 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg275*) in the FGD4 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs118203974, ExAC 0.006%). This variant has been observed in individual(s) with Charcot-Marie-Tooth disease (PMID: 19221294). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 1016). Loss-of-function variants in FGD4 are known to be pathogenic (PMID: 17564972). For these reasons, this variant has been classified as Pathogenic. |
OMIM | RCV000001071 | SCV000021221 | pathogenic | Charcot-Marie-Tooth disease, type 4H | 2009-02-17 | no assertion criteria provided | literature only | |
Gene |
RCV000001071 | SCV000054708 | pathologic | Charcot-Marie-Tooth disease, type 4H | 2012-09-13 | no assertion criteria provided | curation | Converted during submission to Pathogenic. |