ClinVar Miner

Submissions for variant NM_024577.3(SH3TC2):c.3149C>T (p.Ala1050Val) (rs570067509)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000551050 SCV000657923 uncertain significance Charcot-Marie-Tooth disease type 4 2017-10-05 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 1050 of the SH3TC2 protein (p.Ala1050Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine. This variant is present in population databases (rs570067509, ExAC 0.02%). 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: "Possibly Damaging"; Align-GVGD: "Class C0"). 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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