Submissions for variant NM_014845.5(FIG4):c.1940A>G (p.Tyr647Cys) (rs150301327)

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Total submissions: 2

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000688613	SCV000816233	uncertain significance	Charcot-Marie-Tooth disease type 4	2018-08-14	criteria provided, single submitter	clinical testing	This sequence change replaces tyrosine with cysteine at codon 647 of the FIG4 protein (p.Tyr647Cys). The tyrosine residue is moderately conserved and there is a large physicochemical difference between tyrosine and cysteine. This variant is present in population databases (rs150301327, ExAC 0.02%). This variant has been reported in an individual affected with Charcot-Marie-Tooth disease (PMID: 25614874) and individuals affected with amyotropic lateral sclerosis (PMID: 19118816, 28051077). ClinVar contains an entry for this variant (Variation ID: 254671). 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: "Benign"; 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.
Weber Lab,Hannover Medical School	RCV000416491	SCV000299298	likely pathogenic	Amyotrophic lateral sclerosis type 11	2016-09-13	criteria provided, single submitter	research

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