ClinVar Miner

Submissions for variant NM_024577.3(SH3TC2):c.1585_1587delinsTGG (p.Arg529Trp) (rs863224781)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000195994 SCV000255067 uncertain significance Charcot-Marie-Tooth disease type 4 2015-02-27 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 529 of the SH3TC2 protein (p.Arg529Trp). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant has not been published in the literature and is not present in population databases. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies. In summary, this is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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