Submissions for variant NM_024577.3(SH3TC2):c.3611A>G (p.Lys1204Arg) (rs143436632)

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Total submissions: 3

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
CeGaT Praxis fuer Humangenetik Tuebingen	RCV000762170	SCV000892435	uncertain significance	not provided	2018-04-01	criteria provided, single submitter	clinical testing
Invitae	RCV001050940	SCV001215072	uncertain significance	Charcot-Marie-Tooth disease type 4	2019-11-26	criteria provided, single submitter	clinical testing	This sequence change replaces lysine with arginine at codon 1204 of the SH3TC2 protein (p.Lys1204Arg). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and arginine. This variant is present in population databases (rs143436632, ExAC 0.009%). This variant has not been reported in the literature in individuals with SH3TC2-related conditions. ClinVar contains an entry for this variant (Variation ID: 624068). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The arginine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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	RCV001173822	SCV001336936	uncertain significance	Charcot-Marie-Tooth disease		criteria provided, single submitter	clinical testing

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