ClinVar Miner

Submissions for variant NM_014845.5(FIG4):c.205C>T (p.Arg69Cys)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000714673 SCV000845393 uncertain significance FIG4-Related Disorders 2018-08-07 criteria provided, single submitter clinical testing
Invitae RCV000822045 SCV000962826 uncertain significance Charcot-Marie-Tooth disease type 4 2018-08-16 criteria provided, single submitter clinical testing This sequence change replaces arginine with cysteine at codon 69 of the FIG4 protein (p.Arg69Cys). The arginine residue is moderately conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs540674198, ExAC 0.01%). This variant has not been reported in the literature in individuals with FIG4-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0". The cysteine 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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