ClinVar Miner

Submissions for variant NM_024577.3(SH3TC2):c.3847G>T (p.Gly1283Cys)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000812065 SCV000952367 uncertain significance Charcot-Marie-Tooth disease type 4 2018-12-24 criteria provided, single submitter clinical testing This sequence change replaces glycine with cysteine at codon 1283 of the SH3TC2 protein (p.Gly1283Cys). The glycine residue is highly conserved and there is a large physicochemical difference between glycine and cysteine. This variant is present in population databases (rs370844006, ExAC 0.003%). This variant has not been reported in the literature in individuals with SH3TC2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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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