Submissions for variant NM_001136473.1(LITAF):c.*57G>A (rs754821950)

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Total submissions: 2

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000698494	SCV000827160	uncertain significance	Charcot-Marie-Tooth disease, type 1C	2019-05-13	criteria provided, single submitter	clinical testing	This sequence change replaces alanine with threonine at codon 140 of the LITAF protein (p.Ala140Thr). The alanine residue is weakly conserved and there is a small physicochemical difference between alanine and threonine. This variant is present in population databases (rs754821950, ExAC 0.003%). This variant has not been reported in the literature in individuals with LITAF-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
CeGaT Praxis fuer Humangenetik Tuebingen	RCV000996211	SCV001150805	uncertain significance	not provided	2016-05-01	criteria provided, single submitter	clinical testing

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