Submissions for variant NM_024577.3(SH3TC2):c.1969G>A (p.Glu657Lys) (rs80338925)

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Total submissions: 3

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneReviews	RCV000020887	SCV000041483	pathologic	Charcot-Marie-Tooth disease, type 4C	2008-03-31	no assertion criteria provided	curation	Converted during submission to Pathogenic.
Invitae	RCV000206757	SCV000260917	pathogenic	Charcot-Marie-Tooth disease type 4	2016-10-04	criteria provided, single submitter	clinical testing	This sequence change replaces glutamic acid with lysine at codon 657 of the SH3TC2 protein (p.Glu657Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is present in population databases (rs80338925, ExAC <0.01%). This variant was reported in two individuals affected with Charcot-Marie-Tooth disease type 4C, one of whom was homozygous for this variant (PMID: 14574644, 19272779). ClinVar contains an entry for this variant (Variation ID: 21689). Experimental studies have shown that this missense change disrupts SH3TC2 cellular localization, protein-protein interaction, and function (PMID: 20028792). For these reasons, this variant has been classified as Pathogenic.
OMIM	RCV000020887	SCV000022747	pathogenic	Charcot-Marie-Tooth disease, type 4C	2009-04-01	no assertion criteria provided	literature only

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