Submissions for variant NM_024577.3(SH3TC2):c.11G>T (p.Cys4Phe)

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Total submissions: 1

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000701836	SCV000830655	uncertain significance	Charcot-Marie-Tooth disease type 4	2018-03-29	criteria provided, single submitter	clinical testing	This sequence change replaces cysteine with phenylalanine at codon 4 of the SH3TC2 protein (p.Cys4Phe). The cysteine residue is moderately conserved and there is a large physicochemical difference between cysteine and phenylalanine. This variant is present in population databases (rs562967549, ExAC 0.03%). This variant has not been reported in the literature in individuals with SH3TC2-related disease. 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: "Probably Damaging"; 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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