ClinVar Miner

Submissions for variant NM_024577.3(SH3TC2):c.2528G>T (p.Gly843Val) (rs1463859150)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000546073 SCV000657914 uncertain significance Charcot-Marie-Tooth disease type 4 2017-06-05 criteria provided, single submitter clinical testing This sequence change replaces glycine with valine at codon 843 of the SH3TC2 protein (p.Gly843Val). 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 been reported in an individual who underwent genetic testing for Charcot-Marie-Tooth disease (PMID: 25614874). 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: "Probably Damaging"; Align-GVGD: "Class C15"). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. In summary, this variant has uncertain impact on SH3TC2 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics,Fulgent Genetics RCV000765820 SCV000897213 uncertain significance Charcot-Marie-Tooth disease, type 4C; Mononeuropathy of the median nerve, mild 2018-10-31 criteria provided, single submitter clinical testing
Molecular Genetics Laboratory,London Health Sciences Centre RCV001173153 SCV001336230 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing

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