ClinVar Miner

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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