ClinVar Miner

Submissions for variant NM_015046.7(SETX):c.4051C>G (p.Gln1351Glu) (rs375241191)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000536880 SCV000645255 uncertain significance Amyotrophic lateral sclerosis type 4; Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 2017-03-13 criteria provided, single submitter clinical testing This sequence change replaces glutamine with glutamic acid at codon 1351 of the SETX protein (p.Gln1351Glu). The glutamine residue is weakly conserved and there is a small physicochemical difference between glutamine and glutamic acid. This variant is present in population databases (rs375241191, ExAC 0.003%) but has not been reported in the literature in individuals with a SETX-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but 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. There is no indication that it causes disease, but 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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