ClinVar Miner

Submissions for variant NM_139241.3(FGD4):c.1729C>T (p.Arg577Ter) (rs778377449)

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Total submissions: 1
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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.

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