Submissions for variant NM_014845.5(FIG4):c.2146C>T (p.Arg716Cys) (rs139235893)

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Minimum conflict level: Report conflict between different conditions
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Total submissions: 2

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories	RCV000506570	SCV000603716	uncertain significance	not specified	2017-01-31	criteria provided, single submitter	clinical testing
Invitae	RCV000560685	SCV000657855	uncertain significance	Charcot-Marie-Tooth disease type 4	2018-11-07	criteria provided, single submitter	clinical testing	This sequence change replaces arginine with cysteine at codon 716 of the FIG4 protein (p.Arg716Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs139235893, ExAC 0.01%). This variant has not been reported in the literature in individuals with FIG4-related disease. ClinVar contains an entry for this variant (Variation ID: 439727). 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: "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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