Submissions for variant NM_024577.3(SH3TC2):c.1318C>T (p.Arg440Cys)

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Total submissions: 2

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Athena Diagnostics Inc	RCV000713262	SCV000843850	uncertain significance	not provided	2018-02-22	criteria provided, single submitter	clinical testing
Invitae	RCV000707256	SCV000836346	uncertain significance	Charcot-Marie-Tooth disease type 4	2018-10-30	criteria provided, single submitter	clinical testing	This sequence change replaces arginine with cysteine at codon 440 of the SH3TC2 protein (p.Arg440Cys). The arginine residue is weakly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs768012192, ExAC 0.006%). This variant has not been reported in the literature in individuals with SH3TC2-related disease. 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: "Benign"; Align-GVGD: "Class C25"). 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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