ClinVar Miner

Submissions for variant NM_014845.6(FIG4):c.649G>T (p.Val217Leu)

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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 RCV004720628 SCV005329364 uncertain significance Charcot-Marie-Tooth disease type 4J 2023-05-20 criteria provided, single submitter clinical testing The missense c.649G>T (p.Val217Leu) variant in the FIG4 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is absent in the gnomAD Exomes. The amino acid Valine at position 217 is changed to a Leucine changing protein sequence and it might alter its composition and physico-chemical properties. Computational evidence (Polyphen - Benign, SIFT - Tolerated and MutationTaster - Disease causing) predicts conflicting evidence on protein structure and function for this variant. The amino acid change p.Val217Leu in FIG4 is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.

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