Submissions for variant NM_024577.3(SH3TC2):c.661T>C (p.Ser221Pro) (rs747024391)

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Total submissions: 2

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000702950	SCV000831827	uncertain significance	Charcot-Marie-Tooth disease type 4	2018-05-01	criteria provided, single submitter	clinical testing	This sequence change replaces serine with proline at codon 221 of the SH3TC2 protein (p.Ser221Pro). The serine residue is highly conserved and there is a moderate physicochemical difference between serine and proline. This variant is present in population databases (rs747024391, ExAC 0.01%). 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: "Tolerated"; 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.
Molecular Genetics Laboratory,London Health Sciences Centre	RCV001173832	SCV001336948	uncertain significance	Charcot-Marie-Tooth disease		criteria provided, single submitter	clinical testing

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