ClinVar Miner

Submissions for variant NM_024577.3(SH3TC2):c.1244G>T (p.Gly415Val) (rs1561765509)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000693980 SCV000822404 uncertain significance Charcot-Marie-Tooth disease type 4 2018-02-08 criteria provided, single submitter clinical testing This sequence change replaces glycine with valine at codon 415 of the SH3TC2 protein (p.Gly415Val). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and valine. This variant is not present in population databases (ExAC no frequency). 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: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15"). 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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