Submissions for variant NM_024577.3(SH3TC2):c.680G>A (p.Arg227Gln) (rs1257812868)

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Total submissions: 2

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000532083	SCV000657933	uncertain significance	Charcot-Marie-Tooth disease type 4	2018-07-03	criteria provided, single submitter	clinical testing	This sequence change replaces arginine with glutamine at codon 227 of the SH3TC2 protein (p.Arg227Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is not present in population databases (ExAC no frequency). This variant has been reported as heterozygous in an individual affected with Charcot-Marie-Tooth disease (PMID: 21291453). 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: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a rare missense change with uncertain impact on protein function. While it is absent from the population and reported in an affected individual, the available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Inherited Neuropathy Consortium	RCV000789575	SCV000928931	uncertain significance	Charcot-Marie-Tooth disease		no assertion criteria provided	literature only

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