ClinVar Miner

Submissions for variant NM_001370298.3(FGD4):c.1685AAG[1] (p.Glu563del)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV004764346 SCV005373637 uncertain significance Charcot-Marie-Tooth disease type 4H 2023-05-20 criteria provided, single submitter clinical testing The observed inframe deletion variant c.1688_1690del(p.Glu563del) in FGD4 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.1688_1690del variant is absent in gnomAD Exomes. This p.Glu563del causes deletion of amino acid Glutamic Acid at position 563. For these reasons, this variant has been classified as Uncertain Significance.

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