ClinVar Miner

Submissions for variant NM_024577.3(SH3TC2):c.1585_1587delinsTGG (p.Arg529Trp) (rs863224781)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000195994 SCV000255067 likely pathogenic Charcot-Marie-Tooth disease type 4 2019-03-18 criteria provided, single submitter clinical testing This sequence change replaces arginine with tryptophan at codon 529 of the SH3TC2 protein (p.Arg529Trp). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant has been observed in multiple individuals affected with autosomal recessive Charcot-Marie-Tooth disease (CMT4) (PMID: 30001926). ClinVar contains an entry for this variant (Variation ID: 216738). 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. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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