ClinVar Miner

Submissions for variant NM_024577.3(SH3TC2):c.1318C>T (p.Arg440Cys) (rs768012192)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000707256 SCV000836346 uncertain significance Charcot-Marie-Tooth disease type 4 2019-08-30 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.
Athena Diagnostics Inc RCV000713262 SCV000843850 uncertain significance not provided 2018-02-22 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001173838 SCV001336954 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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