ClinVar Miner

Submissions for variant NM_024577.4(SH3TC2):c.2433G>T (p.Gln811His)

dbSNP: rs746538256
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, London Health Sciences Centre RCV001173830 SCV001336946 uncertain significance Charcot-Marie-Tooth disease criteria provided, single submitter clinical testing
Invitae RCV001213549 SCV001385184 uncertain significance Charcot-Marie-Tooth disease type 4 2021-08-28 criteria provided, single submitter clinical testing This sequence change replaces glutamine with histidine at codon 811 of the SH3TC2 protein (p.Gln811His). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and histidine. This variant is present in population databases (rs746538256, ExAC 0.003%). This variant has not been reported in the literature in individuals affected with SH3TC2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; 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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