ClinVar Miner

Submissions for variant NM_014845.5(FIG4):c.328A>G (p.Ile110Val) (rs140331779)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000516609 SCV000613301 uncertain significance not specified 2016-12-29 criteria provided, single submitter clinical testing
Invitae RCV000229233 SCV000290005 uncertain significance Charcot-Marie-Tooth disease type 4 2016-01-19 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 110 of the FIG4 protein (p.Ile110Val). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and valine. This variant is present in population databases (rs140331779, ExAC 0.06%) but has not been reported in the literature in individuals with a FIG4-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function 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 mRNA splicing suggest that this variant may alter mRNA splicing, but this prediction has not been confirmed by published transcriptional studies. In summary, this is a rare missense change with uncertain impact on splicing and protein function. There is no indication that this variant causes disease, but the evidence is insufficient at this time to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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