ClinVar Miner

Submissions for variant NM_014845.6(FIG4):c.353A>G (p.Asp118Gly)

gnomAD frequency: 0.00001  dbSNP: rs771093157
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001217819 SCV001389672 uncertain significance Charcot-Marie-Tooth disease type 4 2021-09-01 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid with glycine at codon 118 of the FIG4 protein (p.Asp118Gly). The aspartic acid residue is moderately conserved and there is a moderate physicochemical difference between aspartic acid and glycine. This variant is present in population databases (rs771093157, ExAC 0.001%). This variant has not been reported in the literature in individuals affected with FIG4-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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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