ClinVar Miner

Submissions for variant NM_024577.3(SH3TC2):c.3847G>C (p.Gly1283Arg) (rs370844006)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000203966 SCV000259872 uncertain significance Charcot-Marie-Tooth disease type 4 2015-08-08 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 1283 of the SH3TC2 protein (p.Gly1283Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is not present in population databases and has not been published in the literature. 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 C65"). Also, this amino acid change and others are seen in multiple mammalian species. 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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