ClinVar Miner

Submissions for variant NM_024577.3(SH3TC2):c.3379C>T (p.Arg1127Trp) (rs1580888993)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001044556 SCV001208360 uncertain significance Charcot-Marie-Tooth disease type 4 2019-12-19 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 1127 of the SH3TC2 protein (p.Arg1127Trp). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is not present in population databases (ExAC no frequency). This variant has been observed to be homozygous in an individual affected with Charcot-Marie-Tooth disease (PMID: 23466821). ClinVar contains an entry for this variant (Variation ID: 637412). 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.
Inherited Neuropathy Consortium RCV000789573 SCV000928929 uncertain significance Charcot-Marie-Tooth disease no assertion criteria provided literature only

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