Submissions for variant NM_024577.3(SH3TC2):c.1607G>A (p.Arg536Gln) (rs369977771)

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Total submissions: 2

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
CeGaT Praxis fuer Humangenetik Tuebingen	RCV000762176	SCV000892441	uncertain significance	not provided	2018-09-30	criteria provided, single submitter	clinical testing
Invitae	RCV000458241	SCV000546358	uncertain significance	Charcot-Marie-Tooth disease type 4	2018-07-06	criteria provided, single submitter	clinical testing	This sequence change replaces arginine with glutamine at codon 536 of the SH3TC2 protein (p.Arg536Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs369977771, ExAC 0.09%). This variant has not been reported in the literature in individuals with SH3TC2-related disease. ClinVar contains an entry for this variant (Variation ID: 407266). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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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