Submissions for variant NM_024577.3(SH3TC2):c.1483A>G (p.Thr495Ala) (rs10077543)

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Total submissions: 2

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000507530	SCV000605102	uncertain significance	not specified	2016-09-28	criteria provided, single submitter	clinical testing
Invitae	RCV000462842	SCV000546359	uncertain significance	Charcot-Marie-Tooth disease type 4	2016-12-13	criteria provided, single submitter	clinical testing	This sequence change replaces threonine with alanine at codon 495 of the SH3TC2 protein (p.Thr495Ala). The threonine residue is highly conserved and there is a small physicochemical difference between threonine and alanine. This variant is present in population databases (rs10077543, ExAC 0.2%) but has not been reported in the literature in individuals with a SH3TC2-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). The alanine 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. In summary, this variant is a rare missense change that is not predicted to affect protein function, and is found in the population at an appreciable frequency. This variant is not anticipated to cause disease; however, the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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