ClinVar Miner

Submissions for variant NM_139241.3(FGD4):c.991del (p.Gln331fs) (rs1393673267)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000691156 SCV000818901 pathogenic Charcot-Marie-Tooth disease type 4 2018-06-01 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln331Argfs*9) in the FGD4 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with FGD4-related disease. 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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