Submissions for variant NM_015046.7(SETX):c.6122T>C (p.Ile2041Thr)

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Total submissions: 2

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000792834	SCV000932156	uncertain significance	Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2	2018-07-06	criteria provided, single submitter	clinical testing	This sequence change replaces isoleucine with threonine at codon 2041 of the SETX protein (p.Ile2041Thr). The isoleucine residue is moderately conserved and there is a moderate physicochemical difference between isoleucine and threonine. This variant is present in population databases (rs140676924, ExAC 0.04%). This variant has not been reported in the literature in individuals with SETX-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably 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.
Athena Diagnostics Inc	RCV000992948	SCV001145565	likely benign	not provided	2019-02-11	criteria provided, single submitter	clinical testing

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