ClinVar Miner

Submissions for variant NM_014845.5(FIG4):c.350C>T (p.Ala117Val) (rs551339249)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000288549 SCV000459614 uncertain significance Charcot-Marie-Tooth disease type 4 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000343538 SCV000459615 uncertain significance Amyotrophic Lateral Sclerosis, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000288549 SCV000829288 uncertain significance Charcot-Marie-Tooth disease type 4 2018-02-09 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 117 of the FIG4 protein (p.Ala117Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine. This variant is present in population databases (rs551339249, ExAC 0.03%). This variant has not been reported in the literature in individuals with FIG4-related disease. ClinVar contains an entry for this variant (Variation ID: 355037). 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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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