ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.6248G>T (p.Arg2083Ile)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory,Koc University RCV001095487 SCV001251081 uncertain significance Amyotrophic lateral sclerosis 2020-03-31 criteria provided, single submitter research
Invitae RCV001212562 SCV001384150 uncertain significance Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2019-09-27 criteria provided, single submitter clinical testing This sequence change replaces arginine with isoleucine at codon 2083 of the SETX protein (p.Arg2083Ile). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and isoleucine. This variant is present in population databases (rs751252138, ExAC 0.006%). This variant has not been reported in the literature in individuals with SETX-related conditions. 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: "Benign"; 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.

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