ClinVar Miner

Submissions for variant NM_001370298.3(FGD4):c.764C>T (p.Ala255Val)

dbSNP: rs1946672101
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001342689 SCV001536634 uncertain significance Charcot-Marie-Tooth disease type 4 2020-01-09 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with valine at codon 118 of the FGD4 protein (p.Ala118Val). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and valine. This variant has not been reported in the literature in individuals with FGD4-related conditions. 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain.

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