ClinVar Miner

Submissions for variant NM_001370298.3(FGD4):c.1390G>A (p.Val464Ile)

dbSNP: rs2082190695
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001313489 SCV001503986 uncertain significance Charcot-Marie-Tooth disease type 4 2020-08-19 criteria provided, single submitter clinical testing This sequence change replaces valine with isoleucine at codon 327 of the FGD4 protein (p.Val327Ile). The valine residue is moderately conserved and there is a small physicochemical difference between valine and isoleucine. 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 conditions. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The isoleucine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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